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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs6265

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:27658369 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.190935 (71760/375834, ALFA)
T=0.151052 (39982/264690, TOPMED)
T=0.194877 (48968/251276, GnomAD_exome) (+ 27 more)
T=0.145326 (20366/140140, GnomAD)
T=0.193745 (23511/121350, ExAC)
T=0.14425 (11352/78698, PAGE_STUDY)
T=0.40912 (11561/28258, 14KJPN)
T=0.40888 (6852/16758, 8.3KJPN)
T=0.1955 (1252/6404, 1000G_30x)
T=0.2013 (1008/5008, 1000G)
T=0.1527 (684/4480, Estonian)
T=0.1798 (693/3854, ALSPAC)
T=0.1928 (715/3708, TWINSUK)
T=0.4481 (1313/2930, KOREAN)
T=0.2022 (421/2082, HGDP_Stanford)
T=0.4656 (853/1832, Korea1K)
T=0.1881 (322/1712, HapMap)
T=0.1444 (164/1136, Daghestan)
T=0.206 (206/998, GoNL)
T=0.115 (72/626, Chileans)
C=0.490 (300/612, Vietnamese)
T=0.205 (123/600, NorthernSweden)
T=0.227 (121/534, MGP)
T=0.168 (51/304, FINRISK)
T=0.125 (27/216, Qatari)
C=0.417 (75/180, SGDP_PRJ)
T=0.36 (34/94, Ancient Sardinia)
T=0.23 (9/40, GENOME_DK)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BDNF : Missense Variant
BDNF-AS : Non Coding Transcript Variant
Publications
631 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 392256 C=0.811032 T=0.188968
European Sub 336012 C=0.806254 T=0.193746
African Sub 17230 C=0.95757 T=0.04243
African Others Sub 606 C=0.987 T=0.013
African American Sub 16624 C=0.95651 T=0.04349
Asian Sub 4062 C=0.5551 T=0.4449
East Asian Sub 3230 C=0.5464 T=0.4536
Other Asian Sub 832 C=0.589 T=0.411
Latin American 1 Sub 1572 C=0.8518 T=0.1482
Latin American 2 Sub 5338 C=0.8329 T=0.1671
South Asian Sub 5238 C=0.8087 T=0.1913
Other Sub 22804 C=0.80889 T=0.19111


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 375834 C=0.809065 T=0.190935
Allele Frequency Aggregator European Sub 325872 C=0.806080 T=0.193920
Allele Frequency Aggregator Other Sub 21358 C=0.80827 T=0.19173
Allele Frequency Aggregator African Sub 12394 C=0.95659 T=0.04341
Allele Frequency Aggregator Latin American 2 Sub 5338 C=0.8329 T=0.1671
Allele Frequency Aggregator South Asian Sub 5238 C=0.8087 T=0.1913
Allele Frequency Aggregator Asian Sub 4062 C=0.5551 T=0.4449
Allele Frequency Aggregator Latin American 1 Sub 1572 C=0.8518 T=0.1482
TopMed Global Study-wide 264690 C=0.848948 T=0.151052
gnomAD - Exomes Global Study-wide 251276 C=0.805123 T=0.194877
gnomAD - Exomes European Sub 135210 C=0.815901 T=0.184099
gnomAD - Exomes Asian Sub 49008 C=0.69458 T=0.30542
gnomAD - Exomes American Sub 34592 C=0.84788 T=0.15212
gnomAD - Exomes African Sub 16254 C=0.96665 T=0.03335
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=0.78374 T=0.21626
gnomAD - Exomes Other Sub 6136 C=0.8167 T=0.1833
gnomAD - Genomes Global Study-wide 140140 C=0.854674 T=0.145326
gnomAD - Genomes European Sub 75878 C=0.81605 T=0.18395
gnomAD - Genomes African Sub 42016 C=0.96123 T=0.03877
gnomAD - Genomes American Sub 13652 C=0.84068 T=0.15932
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7812 T=0.2188
gnomAD - Genomes East Asian Sub 3128 C=0.5153 T=0.4847
gnomAD - Genomes Other Sub 2144 C=0.8316 T=0.1684
ExAC Global Study-wide 121350 C=0.806255 T=0.193745
ExAC Europe Sub 73324 C=0.81100 T=0.18900
ExAC Asian Sub 25158 C=0.70550 T=0.29450
ExAC American Sub 11576 C=0.85003 T=0.14997
ExAC African Sub 10384 C=0.96533 T=0.03467
ExAC Other Sub 908 C=0.837 T=0.163
The PAGE Study Global Study-wide 78698 C=0.85575 T=0.14425
The PAGE Study AfricanAmerican Sub 32514 C=0.95488 T=0.04512
The PAGE Study Mexican Sub 10810 C=0.83802 T=0.16198
The PAGE Study Asian Sub 8318 C=0.5808 T=0.4192
The PAGE Study PuertoRican Sub 7916 C=0.8560 T=0.1440
The PAGE Study NativeHawaiian Sub 4534 C=0.6621 T=0.3379
The PAGE Study Cuban Sub 4230 C=0.8407 T=0.1593
The PAGE Study Dominican Sub 3828 C=0.8945 T=0.1055
The PAGE Study CentralAmerican Sub 2450 C=0.8931 T=0.1069
The PAGE Study SouthAmerican Sub 1982 C=0.8648 T=0.1352
The PAGE Study NativeAmerican Sub 1260 C=0.8468 T=0.1532
The PAGE Study SouthAsian Sub 856 C=0.797 T=0.203
14KJPN JAPANESE Study-wide 28258 C=0.59088 T=0.40912
8.3KJPN JAPANESE Study-wide 16758 C=0.59112 T=0.40888
1000Genomes_30x Global Study-wide 6404 C=0.8045 T=0.1955
1000Genomes_30x African Sub 1786 C=0.9916 T=0.0084
1000Genomes_30x Europe Sub 1266 C=0.8057 T=0.1943
1000Genomes_30x South Asian Sub 1202 C=0.7920 T=0.2080
1000Genomes_30x East Asian Sub 1170 C=0.5009 T=0.4991
1000Genomes_30x American Sub 980 C=0.840 T=0.160
1000Genomes Global Study-wide 5008 C=0.7987 T=0.2013
1000Genomes African Sub 1322 C=0.9894 T=0.0106
1000Genomes East Asian Sub 1008 C=0.5119 T=0.4881
1000Genomes Europe Sub 1006 C=0.8032 T=0.1968
1000Genomes South Asian Sub 978 C=0.798 T=0.202
1000Genomes American Sub 694 C=0.847 T=0.153
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8473 T=0.1527
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8202 T=0.1798
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8072 T=0.1928
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5519 T=0.4481
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 C=0.7978 T=0.2022
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.581 T=0.419
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.855 T=0.145
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.846 T=0.154
HGDP-CEPH-db Supplement 1 Europe Sub 318 C=0.805 T=0.195
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.992 T=0.008
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.829 T=0.171
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.88 T=0.12
Korean Genome Project KOREAN Study-wide 1832 C=0.5344 T=0.4656
HapMap Global Study-wide 1712 C=0.8119 T=0.1881
HapMap American Sub 770 C=0.770 T=0.230
HapMap African Sub 512 C=0.992 T=0.008
HapMap Asian Sub 254 C=0.614 T=0.386
HapMap Europe Sub 176 C=0.756 T=0.244
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.8556 T=0.1444
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.869 T=0.131
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.812 T=0.188
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.811 T=0.189
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.861 T=0.139
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.89 T=0.11
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.83 T=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.794 T=0.206
Chileans Chilean Study-wide 626 C=0.885 T=0.115
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.490 T=0.510
Northern Sweden ACPOP Study-wide 600 C=0.795 T=0.205
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.773 T=0.227
FINRISK Finnish from FINRISK project Study-wide 304 C=0.832 T=0.168
Qatari Global Study-wide 216 C=0.875 T=0.125
SGDP_PRJ Global Study-wide 180 C=0.417 T=0.583
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 C=0.64 T=0.36
The Danish reference pan genome Danish Study-wide 40 C=0.78 T=0.23
Siberian Global Study-wide 12 C=0.50 T=0.50
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.27658369C>T
GRCh37.p13 chr 11 NC_000011.9:g.27679916C>T
BDNF RefSeqGene NG_011794.1:g.68690G>A
Gene: BDNF, brain derived neurotrophic factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BDNF transcript variant 2 NM_170732.4:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_733928.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 7 NM_001143805.1:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137277.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 8 NM_001143806.1:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137278.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 4 NM_001709.5:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001700.2:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 13 NM_001143813.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137285.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 3 NM_170731.5:c.220G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform b precursor NP_733927.1:p.Val74Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 9 NM_001143807.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137279.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 14 NM_001143814.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137286.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 10 NM_001143808.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137280.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 1 NM_170735.6:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_733931.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 16 NM_001143816.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137288.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 5 NM_170733.4:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_733929.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 11 NM_001143811.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137283.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 12 NM_001143812.2:c.196G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform a preproprotein NP_001137284.1:p.Val66Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 17 NM_001143809.2:c.283G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform d precursor NP_001137281.1:p.Val95Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 18 NM_001143810.2:c.442G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform e NP_001137282.1:p.Val148Met V (Val) > M (Met) Missense Variant
BDNF transcript variant 6 NM_170734.4:c.241G>A V [GTG] > M [ATG] Coding Sequence Variant
brain-derived neurotrophic factor isoform c precursor NP_733930.1:p.Val81Met V (Val) > M (Met) Missense Variant
Gene: BDNF-AS, BDNF antisense RNA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BDNF-AS transcript variant BT2B NR_002832.2:n.503C>T N/A Non Coding Transcript Variant
BDNF-AS transcript variant BT1C NR_033312.1:n.434C>T N/A Non Coding Transcript Variant
BDNF-AS transcript variant BT1A NR_033313.1:n.434C>T N/A Non Coding Transcript Variant
BDNF-AS transcript variant BT2A NR_033314.1:n.503C>T N/A Non Coding Transcript Variant
BDNF-AS transcript variant BT1B NR_033315.1:n.434C>T N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 32736 )
ClinVar Accession Disease Names Clinical Significance
RCV000019267.6 Memory impairment, susceptibility to Risk-Factor
RCV000155463.4 not specified Benign
RCV002054446.3 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= T
GRCh38.p14 chr 11 NC_000011.10:g.27658369= NC_000011.10:g.27658369C>T
GRCh37.p13 chr 11 NC_000011.9:g.27679916= NC_000011.9:g.27679916C>T
BDNF RefSeqGene NG_011794.1:g.68690= NG_011794.1:g.68690G>A
BDNF transcript variant 1 NM_170735.6:c.196= NM_170735.6:c.196G>A
BDNF transcript variant 1 NM_170735.5:c.196= NM_170735.5:c.196G>A
BDNF transcript variant 3 NM_170731.5:c.220= NM_170731.5:c.220G>A
BDNF transcript variant 3 NM_170731.4:c.220= NM_170731.4:c.220G>A
BDNF transcript variant 4 NM_001709.5:c.196= NM_001709.5:c.196G>A
BDNF transcript variant 4 NM_001709.4:c.196= NM_001709.4:c.196G>A
BDNF transcript variant 2 NM_170732.4:c.196= NM_170732.4:c.196G>A
BDNF transcript variant 5 NM_170733.4:c.196= NM_170733.4:c.196G>A
BDNF transcript variant 5 NM_170733.3:c.196= NM_170733.3:c.196G>A
BDNF transcript variant 6 NM_170734.4:c.241= NM_170734.4:c.241G>A
BDNF transcript variant 6 NM_170734.3:c.241= NM_170734.3:c.241G>A
BDNF transcript variant 16 NM_001143816.2:c.196= NM_001143816.2:c.196G>A
BDNF transcript variant 16 NM_001143816.1:c.196= NM_001143816.1:c.196G>A
BDNF transcript variant 11 NM_001143811.2:c.196= NM_001143811.2:c.196G>A
BDNF transcript variant 11 NM_001143811.1:c.196= NM_001143811.1:c.196G>A
BDNF transcript variant 14 NM_001143814.2:c.196= NM_001143814.2:c.196G>A
BDNF transcript variant 14 NM_001143814.1:c.196= NM_001143814.1:c.196G>A
BDNF transcript variant 18 NM_001143810.2:c.442= NM_001143810.2:c.442G>A
BDNF transcript variant 18 NM_001143810.1:c.442= NM_001143810.1:c.442G>A
BDNF transcript variant 13 NM_001143813.2:c.196= NM_001143813.2:c.196G>A
BDNF transcript variant 13 NM_001143813.1:c.196= NM_001143813.1:c.196G>A
BDNF transcript variant 12 NM_001143812.2:c.196= NM_001143812.2:c.196G>A
BDNF transcript variant 12 NM_001143812.1:c.196= NM_001143812.1:c.196G>A
BDNF transcript variant 17 NM_001143809.2:c.283= NM_001143809.2:c.283G>A
BDNF transcript variant 17 NM_001143809.1:c.283= NM_001143809.1:c.283G>A
BDNF transcript variant 10 NM_001143808.2:c.196= NM_001143808.2:c.196G>A
BDNF transcript variant 10 NM_001143808.1:c.196= NM_001143808.1:c.196G>A
BDNF transcript variant 9 NM_001143807.2:c.196= NM_001143807.2:c.196G>A
BDNF transcript variant 9 NM_001143807.1:c.196= NM_001143807.1:c.196G>A
BDNF transcript variant 8 NM_001143806.1:c.196= NM_001143806.1:c.196G>A
BDNF transcript variant 7 NM_001143805.1:c.196= NM_001143805.1:c.196G>A
BDNF-AS transcript variant BT2B NR_002832.2:n.503= NR_002832.2:n.503C>T
BDNF-AS transcript variant BT1C NR_033312.1:n.434= NR_033312.1:n.434C>T
BDNF-AS transcript variant BT2A NR_033314.1:n.503= NR_033314.1:n.503C>T
BDNF-AS transcript variant BT1B NR_033315.1:n.434= NR_033315.1:n.434C>T
BDNF-AS transcript variant BT1A NR_033313.1:n.434= NR_033313.1:n.434C>T
BDNF transcript variant 15 NM_001143815.1:c.196= NM_001143815.1:c.196G>A
brain-derived neurotrophic factor isoform a preproprotein NP_733931.1:p.Val66= NP_733931.1:p.Val66Met
brain-derived neurotrophic factor isoform b precursor NP_733927.1:p.Val74= NP_733927.1:p.Val74Met
brain-derived neurotrophic factor isoform a preproprotein NP_001700.2:p.Val66= NP_001700.2:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_733928.1:p.Val66= NP_733928.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_733929.1:p.Val66= NP_733929.1:p.Val66Met
brain-derived neurotrophic factor isoform c precursor NP_733930.1:p.Val81= NP_733930.1:p.Val81Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137288.1:p.Val66= NP_001137288.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137283.1:p.Val66= NP_001137283.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137286.1:p.Val66= NP_001137286.1:p.Val66Met
brain-derived neurotrophic factor isoform e NP_001137282.1:p.Val148= NP_001137282.1:p.Val148Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137285.1:p.Val66= NP_001137285.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137284.1:p.Val66= NP_001137284.1:p.Val66Met
brain-derived neurotrophic factor isoform d precursor NP_001137281.1:p.Val95= NP_001137281.1:p.Val95Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137280.1:p.Val66= NP_001137280.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137279.1:p.Val66= NP_001137279.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137278.1:p.Val66= NP_001137278.1:p.Val66Met
brain-derived neurotrophic factor isoform a preproprotein NP_001137277.1:p.Val66= NP_001137277.1:p.Val66Met
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

204 SubSNP, 31 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7889 Sep 19, 2000 (52)
2 YUSUKE ss5015735 Aug 28, 2002 (108)
3 HG_BONN_CNS_SNPS ss12586728 Aug 26, 2003 (117)
4 SC_SNP ss16110854 Feb 27, 2004 (120)
5 CGAP-GAI ss16257509 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19221857 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19926147 Feb 27, 2004 (120)
8 SSAHASNP ss20799529 Apr 05, 2004 (121)
9 IMCJ-GDT ss22886806 Apr 05, 2004 (121)
10 PERLEGEN ss24149102 Sep 20, 2004 (123)
11 MGC_GENOME_DIFF ss28509849 Sep 24, 2004 (126)
12 ABI ss38790107 Mar 10, 2006 (126)
13 APPLERA_GI ss48423502 Mar 10, 2006 (126)
14 AFFY ss66120185 Nov 29, 2006 (127)
15 ILLUMINA ss66654688 Nov 29, 2006 (127)
16 ILLUMINA ss67448802 Nov 29, 2006 (127)
17 ILLUMINA ss67800191 Nov 29, 2006 (127)
18 PERLEGEN ss69313816 May 16, 2007 (127)
19 ILLUMINA ss70861507 May 26, 2008 (130)
20 ILLUMINA ss71448862 May 16, 2007 (127)
21 ILLUMINA ss75492161 Dec 05, 2007 (129)
22 AFFY ss76112437 Dec 05, 2007 (129)
23 CGM_KYOTO ss76872494 Dec 05, 2007 (129)
24 SI_EXO ss76884466 Dec 05, 2007 (129)
25 ILLUMINA ss79218547 Dec 15, 2007 (130)
26 KRIBB_YJKIM ss83347130 Dec 15, 2007 (130)
27 HGSV ss86044520 Dec 15, 2007 (130)
28 BCMHGSC_JDW ss88519571 Mar 23, 2008 (129)
29 HUMANGENOME_JCVI ss97463065 Feb 06, 2009 (130)
30 ILLUMINA ss122526781 Dec 01, 2009 (131)
31 ENSEMBL ss132391628 Dec 01, 2009 (131)
32 ENSEMBL ss137760330 Dec 01, 2009 (131)
33 ILLUMINA ss154356517 Dec 01, 2009 (131)
34 ILLUMINA ss159532780 Dec 01, 2009 (131)
35 SEATTLESEQ ss159722962 Dec 01, 2009 (131)
36 ILLUMINA ss160769670 Dec 01, 2009 (131)
37 COMPLETE_GENOMICS ss168106615 Jul 04, 2010 (132)
38 COMPLETE_GENOMICS ss170723311 Jul 04, 2010 (132)
39 ILLUMINA ss172111436 Jul 04, 2010 (132)
40 AFFY ss172543408 Jul 04, 2010 (132)
41 ILLUMINA ss173991729 Jul 04, 2010 (132)
42 PAGE_STUDY ss182258803 Jul 04, 2010 (132)
43 PAGE_STUDY ss182258834 Jul 04, 2010 (132)
44 1000GENOMES ss235499525 Jul 15, 2010 (132)
45 1000GENOMES ss242143891 Jul 15, 2010 (132)
46 OMICIA ss244238900 Aug 29, 2012 (137)
47 ILLUMINA ss244304653 Jul 04, 2010 (132)
48 OMIM-CURATED-RECORDS ss263197788 Nov 04, 2010 (133)
49 GMI ss280939109 May 04, 2012 (137)
50 GMI ss286344166 Apr 25, 2013 (138)
51 PJP ss291208569 May 09, 2011 (134)
52 NHLBI-ESP ss342321448 May 09, 2011 (134)
53 ILLUMINA ss410940482 Sep 17, 2011 (135)
54 PAGE_STUDY ss469415390 May 04, 2012 (137)
55 ILLUMINA ss481228852 May 04, 2012 (137)
56 ILLUMINA ss481252419 May 04, 2012 (137)
57 ILLUMINA ss482238829 Sep 08, 2015 (146)
58 ILLUMINA ss485409758 May 04, 2012 (137)
59 1000GENOMES ss491015044 May 04, 2012 (137)
60 EXOME_CHIP ss491448493 May 04, 2012 (137)
61 CLINSEQ_SNP ss491641794 May 04, 2012 (137)
62 ILLUMINA ss537344158 Sep 08, 2015 (146)
63 SSMP ss657957490 Apr 25, 2013 (138)
64 ILLUMINA ss778938426 Aug 21, 2014 (142)
65 ILLUMINA ss780896249 Sep 08, 2015 (146)
66 ILLUMINA ss783150338 Aug 21, 2014 (142)
67 ILLUMINA ss783582995 Sep 08, 2015 (146)
68 ILLUMINA ss784106321 Aug 21, 2014 (142)
69 ILLUMINA ss825549065 Jul 19, 2016 (147)
70 ILLUMINA ss832409527 Apr 01, 2015 (144)
71 ILLUMINA ss833044020 Aug 21, 2014 (142)
72 ILLUMINA ss833634848 Aug 21, 2014 (142)
73 ILLUMINA ss834400106 Aug 21, 2014 (142)
74 EVA-GONL ss988346220 Aug 21, 2014 (142)
75 JMKIDD_LAB ss1067521512 Aug 21, 2014 (142)
76 JMKIDD_LAB ss1077605940 Aug 21, 2014 (142)
77 1000GENOMES ss1340608745 Aug 21, 2014 (142)
78 HAMMER_LAB ss1397603702 Sep 08, 2015 (146)
79 DDI ss1426582936 Apr 01, 2015 (144)
80 EVA_GENOME_DK ss1575612641 Apr 01, 2015 (144)
81 EVA_FINRISK ss1584073819 Apr 01, 2015 (144)
82 EVA_DECODE ss1598022297 Apr 01, 2015 (144)
83 EVA_UK10K_ALSPAC ss1626250508 Apr 01, 2015 (144)
84 EVA_UK10K_TWINSUK ss1669244541 Apr 01, 2015 (144)
85 EVA_EXAC ss1690304714 Apr 01, 2015 (144)
86 EVA_MGP ss1711286917 Apr 01, 2015 (144)
87 EVA_SVP ss1713244242 Apr 01, 2015 (144)
88 ILLUMINA ss1752011944 Sep 08, 2015 (146)
89 ILLUMINA ss1752011945 Sep 08, 2015 (146)
90 ILLUMINA ss1917857738 Feb 12, 2016 (147)
91 WEILL_CORNELL_DGM ss1931707520 Feb 12, 2016 (147)
92 ILLUMINA ss1946306031 Feb 12, 2016 (147)
93 ILLUMINA ss1946306032 Feb 12, 2016 (147)
94 ILLUMINA ss1959336449 Feb 12, 2016 (147)
95 ILLUMINA ss1959336450 Feb 12, 2016 (147)
96 GENOMED ss1967328479 Jul 19, 2016 (147)
97 JJLAB ss2026601482 Sep 14, 2016 (149)
98 ILLUMINA ss2094790360 Dec 20, 2016 (150)
99 ILLUMINA ss2095021016 Dec 20, 2016 (150)
100 CSHL ss2136776518 Nov 08, 2017 (151)
101 EVA ss2137544369 Oct 16, 2022 (156)
102 USC_VALOUEV ss2154890065 Dec 20, 2016 (150)
103 HUMAN_LONGEVITY ss2181188897 Dec 20, 2016 (150)
104 SYSTEMSBIOZJU ss2627773729 Nov 08, 2017 (151)
105 ILLUMINA ss2632817982 Nov 08, 2017 (151)
106 ILLUMINA ss2632817983 Nov 08, 2017 (151)
107 ILLUMINA ss2632817984 Nov 08, 2017 (151)
108 ILLUMINA ss2635024532 Nov 08, 2017 (151)
109 GRF ss2699167918 Nov 08, 2017 (151)
110 ILLUMINA ss2710732189 Nov 08, 2017 (151)
111 GNOMAD ss2738870976 Nov 08, 2017 (151)
112 GNOMAD ss2748583287 Nov 08, 2017 (151)
113 GNOMAD ss2897700734 Nov 08, 2017 (151)
114 AFFY ss2984938208 Nov 08, 2017 (151)
115 AFFY ss2985583329 Nov 08, 2017 (151)
116 SWEGEN ss3007801784 Nov 08, 2017 (151)
117 ILLUMINA ss3021320974 Nov 08, 2017 (151)
118 ILLUMINA ss3021320975 Nov 08, 2017 (151)
119 EVA_SAMSUNG_MC ss3023066529 Nov 08, 2017 (151)
120 BIOINF_KMB_FNS_UNIBA ss3027099325 Nov 08, 2017 (151)
121 CSHL ss3349517651 Nov 08, 2017 (151)
122 ILLUMINA ss3625598510 Oct 12, 2018 (152)
123 ILLUMINA ss3626628211 Oct 12, 2018 (152)
124 ILLUMINA ss3626628212 Oct 12, 2018 (152)
125 ILLUMINA ss3630836302 Oct 12, 2018 (152)
126 ILLUMINA ss3632980783 Oct 12, 2018 (152)
127 ILLUMINA ss3633679710 Oct 12, 2018 (152)
128 ILLUMINA ss3634447257 Oct 12, 2018 (152)
129 ILLUMINA ss3634447258 Oct 12, 2018 (152)
130 ILLUMINA ss3635371481 Oct 12, 2018 (152)
131 ILLUMINA ss3636131800 Oct 12, 2018 (152)
132 ILLUMINA ss3637122310 Oct 12, 2018 (152)
133 ILLUMINA ss3637898466 Oct 12, 2018 (152)
134 ILLUMINA ss3638964746 Oct 12, 2018 (152)
135 ILLUMINA ss3639482955 Oct 12, 2018 (152)
136 ILLUMINA ss3640154596 Oct 12, 2018 (152)
137 ILLUMINA ss3640154597 Oct 12, 2018 (152)
138 ILLUMINA ss3642897586 Oct 12, 2018 (152)
139 ILLUMINA ss3644558838 Oct 12, 2018 (152)
140 ILLUMINA ss3644558839 Oct 12, 2018 (152)
141 OMUKHERJEE_ADBS ss3646423872 Oct 12, 2018 (152)
142 URBANLAB ss3649567984 Oct 12, 2018 (152)
143 ILLUMINA ss3651683878 Oct 12, 2018 (152)
144 ILLUMINA ss3651683879 Oct 12, 2018 (152)
145 ILLUMINA ss3653710073 Oct 12, 2018 (152)
146 EGCUT_WGS ss3675203701 Jul 13, 2019 (153)
147 EVA_DECODE ss3691459786 Jul 13, 2019 (153)
148 ILLUMINA ss3725228031 Jul 13, 2019 (153)
149 ACPOP ss3738036625 Jul 13, 2019 (153)
150 ILLUMINA ss3744082850 Jul 13, 2019 (153)
151 ILLUMINA ss3744378325 Jul 13, 2019 (153)
152 ILLUMINA ss3744748154 Jul 13, 2019 (153)
153 ILLUMINA ss3744748155 Jul 13, 2019 (153)
154 EVA ss3749096546 Jul 13, 2019 (153)
155 PAGE_CC ss3771614886 Jul 13, 2019 (153)
156 ILLUMINA ss3772248191 Jul 13, 2019 (153)
157 ILLUMINA ss3772248192 Jul 13, 2019 (153)
158 KHV_HUMAN_GENOMES ss3814448068 Jul 13, 2019 (153)
159 EVA ss3824603260 Apr 26, 2020 (154)
160 EVA ss3825527377 Apr 26, 2020 (154)
161 EVA ss3825542817 Apr 26, 2020 (154)
162 EVA ss3825795338 Apr 26, 2020 (154)
163 EVA ss3832548482 Apr 26, 2020 (154)
164 EVA ss3839825141 Apr 26, 2020 (154)
165 EVA ss3845302521 Apr 26, 2020 (154)
166 HGDP ss3847414251 Apr 26, 2020 (154)
167 SGDP_PRJ ss3875910060 Apr 26, 2020 (154)
168 KRGDB ss3924155219 Apr 26, 2020 (154)
169 KOGIC ss3969444282 Apr 26, 2020 (154)
170 FSA-LAB ss3983999143 Apr 26, 2021 (155)
171 EVA ss3984648348 Apr 26, 2021 (155)
172 EVA ss3984648349 Apr 26, 2021 (155)
173 EVA ss3985526498 Apr 26, 2021 (155)
174 EVA ss3986519821 Apr 26, 2021 (155)
175 EVA ss4017530352 Apr 26, 2021 (155)
176 TOPMED ss4879424522 Apr 26, 2021 (155)
177 TOMMO_GENOMICS ss5201227254 Apr 26, 2021 (155)
178 EVA ss5236892714 Apr 26, 2021 (155)
179 EVA ss5237657139 Oct 16, 2022 (156)
180 1000G_HIGH_COVERAGE ss5286832162 Oct 16, 2022 (156)
181 TRAN_CS_UWATERLOO ss5314431522 Oct 16, 2022 (156)
182 EVA ss5315537146 Oct 16, 2022 (156)
183 EVA ss5398519665 Oct 16, 2022 (156)
184 HUGCELL_USP ss5482088977 Oct 16, 2022 (156)
185 EVA ss5510299379 Oct 16, 2022 (156)
186 1000G_HIGH_COVERAGE ss5582177682 Oct 16, 2022 (156)
187 EVA ss5624019000 Oct 16, 2022 (156)
188 SANFORD_IMAGENETICS ss5624271129 Oct 16, 2022 (156)
189 SANFORD_IMAGENETICS ss5650889818 Oct 16, 2022 (156)
190 TOMMO_GENOMICS ss5748133124 Oct 16, 2022 (156)
191 EVA ss5799442985 Oct 16, 2022 (156)
192 EVA ss5799838933 Oct 16, 2022 (156)
193 YY_MCH ss5812240822 Oct 16, 2022 (156)
194 EVA ss5836435341 Oct 16, 2022 (156)
195 EVA ss5847388726 Oct 16, 2022 (156)
196 EVA ss5847627211 Oct 16, 2022 (156)
197 EVA ss5848321348 Oct 16, 2022 (156)
198 EVA ss5849917258 Oct 16, 2022 (156)
199 EVA ss5919322181 Oct 16, 2022 (156)
200 EVA ss5936548084 Oct 16, 2022 (156)
201 EVA ss5942198869 Oct 16, 2022 (156)
202 EVA ss5979353907 Oct 16, 2022 (156)
203 EVA ss5980668314 Oct 16, 2022 (156)
204 EVA ss5981266652 Oct 16, 2022 (156)
205 1000Genomes NC_000011.9 - 27679916 Oct 12, 2018 (152)
206 1000Genomes_30x NC_000011.10 - 27658369 Oct 16, 2022 (156)
207 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 27679916 Oct 12, 2018 (152)
208 Chileans NC_000011.9 - 27679916 Apr 26, 2020 (154)
209 Genome-wide autozygosity in Daghestan NC_000011.8 - 27636492 Apr 26, 2020 (154)
210 Genetic variation in the Estonian population NC_000011.9 - 27679916 Oct 12, 2018 (152)
211 ExAC NC_000011.9 - 27679916 Oct 12, 2018 (152)
212 FINRISK NC_000011.9 - 27679916 Apr 26, 2020 (154)
213 The Danish reference pan genome NC_000011.9 - 27679916 Apr 26, 2020 (154)
214 gnomAD - Genomes NC_000011.10 - 27658369 Apr 26, 2021 (155)
215 gnomAD - Exomes NC_000011.9 - 27679916 Jul 13, 2019 (153)
216 Genome of the Netherlands Release 5 NC_000011.9 - 27679916 Apr 26, 2020 (154)
217 HGDP-CEPH-db Supplement 1 NC_000011.8 - 27636492 Apr 26, 2020 (154)
218 HapMap NC_000011.10 - 27658369 Apr 26, 2020 (154)
219 KOREAN population from KRGDB NC_000011.9 - 27679916 Apr 26, 2020 (154)
220 Korean Genome Project NC_000011.10 - 27658369 Apr 26, 2020 (154)
221 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 27679916 Apr 26, 2020 (154)
222 Northern Sweden NC_000011.9 - 27679916 Jul 13, 2019 (153)
223 The PAGE Study NC_000011.10 - 27658369 Jul 13, 2019 (153)
224 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 27679916 Apr 26, 2021 (155)
225 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 197823 (NC_000011.9:27679915:C:T 361/772)
Row 197824 (NC_000011.9:27679915:C:T 368/784)

- Apr 26, 2021 (155)
226 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 197823 (NC_000011.9:27679915:C:T 361/772)
Row 197824 (NC_000011.9:27679915:C:T 368/784)

- Apr 26, 2021 (155)
227 Qatari NC_000011.9 - 27679916 Apr 26, 2020 (154)
228 SGDP_PRJ NC_000011.9 - 27679916 Apr 26, 2020 (154)
229 Siberian NC_000011.9 - 27679916 Apr 26, 2020 (154)
230 8.3KJPN NC_000011.9 - 27679916 Apr 26, 2021 (155)
231 14KJPN NC_000011.10 - 27658369 Oct 16, 2022 (156)
232 TopMed NC_000011.10 - 27658369 Apr 26, 2021 (155)
233 UK 10K study - Twins NC_000011.9 - 27679916 Oct 12, 2018 (152)
234 A Vietnamese Genetic Variation Database NC_000011.9 - 27679916 Jul 13, 2019 (153)
235 ALFA NC_000011.10 - 27658369 Apr 26, 2021 (155)
236 ClinVar RCV000019267.6 Oct 16, 2022 (156)
237 ClinVar RCV000155463.4 Oct 16, 2022 (156)
238 ClinVar RCV002054446.3 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3829232 Oct 08, 2002 (108)
rs16917222 Oct 08, 2004 (123)
rs17855547 Mar 10, 2006 (126)
rs60760775 May 26, 2008 (130)
rs386602118 Jul 31, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
74963, 92143, ss66120185, ss76112437, ss86044520, ss88519571, ss168106615, ss170723311, ss172543408, ss280939109, ss286344166, ss291208569, ss410940482, ss481228852, ss491641794, ss825549065, ss1397603702, ss1598022297, ss1713244242, ss2136776518, ss2635024532, ss3638964746, ss3639482955, ss3642897586, ss3847414251 NC_000011.8:27636491:C:T NC_000011.10:27658368:C:T (self)
53109772, 29503076, 72020, 20941949, 556161, 70280, 2500229, 8082902, 13161713, 31332613, 402677, 11321490, 752425, 13749450, 27927040, 7406419, 59196561, 29503076, 6555269, ss235499525, ss242143891, ss342321448, ss481252419, ss482238829, ss485409758, ss491015044, ss491448493, ss537344158, ss657957490, ss778938426, ss780896249, ss783150338, ss783582995, ss784106321, ss832409527, ss833044020, ss833634848, ss834400106, ss988346220, ss1067521512, ss1077605940, ss1340608745, ss1426582936, ss1575612641, ss1584073819, ss1626250508, ss1669244541, ss1690304714, ss1711286917, ss1752011944, ss1752011945, ss1917857738, ss1931707520, ss1946306031, ss1946306032, ss1959336449, ss1959336450, ss1967328479, ss2026601482, ss2094790360, ss2095021016, ss2154890065, ss2627773729, ss2632817982, ss2632817983, ss2632817984, ss2699167918, ss2710732189, ss2738870976, ss2748583287, ss2897700734, ss2984938208, ss2985583329, ss3007801784, ss3021320974, ss3021320975, ss3023066529, ss3349517651, ss3625598510, ss3626628211, ss3626628212, ss3630836302, ss3632980783, ss3633679710, ss3634447257, ss3634447258, ss3635371481, ss3636131800, ss3637122310, ss3637898466, ss3640154596, ss3640154597, ss3644558838, ss3644558839, ss3646423872, ss3651683878, ss3651683879, ss3653710073, ss3675203701, ss3738036625, ss3744082850, ss3744378325, ss3744748154, ss3744748155, ss3749096546, ss3772248191, ss3772248192, ss3824603260, ss3825527377, ss3825542817, ss3825795338, ss3832548482, ss3839825141, ss3875910060, ss3924155219, ss3983999143, ss3984648348, ss3984648349, ss3985526498, ss3986519821, ss4017530352, ss5201227254, ss5315537146, ss5398519665, ss5510299379, ss5624019000, ss5624271129, ss5650889818, ss5799442985, ss5799838933, ss5836435341, ss5847388726, ss5847627211, ss5848321348, ss5936548084, ss5942198869, ss5979353907, ss5980668314, ss5981266652 NC_000011.9:27679915:C:T NC_000011.10:27658368:C:T (self)
RCV000019267.6, RCV000155463.4, RCV002054446.3, 69703617, 374847171, 578720, 25822283, 836355, 81970228, 94970178, 13625787798, ss244238900, ss263197788, ss2137544369, ss2181188897, ss3027099325, ss3649567984, ss3691459786, ss3725228031, ss3771614886, ss3814448068, ss3845302521, ss3969444282, ss4879424522, ss5236892714, ss5237657139, ss5286832162, ss5314431522, ss5482088977, ss5582177682, ss5748133124, ss5812240822, ss5849917258, ss5919322181 NC_000011.10:27658368:C:T NC_000011.10:27658368:C:T (self)
ss16110854, ss19221857, ss19926147, ss20799529 NT_009237.16:26443855:C:T NC_000011.10:27658368:C:T (self)
ss76884466 NT_009237.17:26467156:C:T NC_000011.10:27658368:C:T (self)
ss7889, ss5015735, ss12586728, ss16257509, ss22886806, ss24149102, ss28509849, ss38790107, ss48423502, ss66654688, ss67448802, ss67800191, ss69313816, ss70861507, ss71448862, ss75492161, ss76872494, ss79218547, ss83347130, ss97463065, ss122526781, ss132391628, ss137760330, ss154356517, ss159532780, ss159722962, ss160769670, ss172111436, ss173991729, ss182258803, ss182258834, ss244304653, ss469415390 NT_009237.18:27619915:C:T NC_000011.10:27658368:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

631 citations for rs6265
PMID Title Author Year Journal
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Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07