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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2378249

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:34630286 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.144652 (38288/264690, TOPMED)
G=0.147328 (20630/140028, GnomAD)
G=0.15850 (13250/83594, ALFA) (+ 19 more)
G=0.13370 (10519/78678, PAGE_STUDY)
G=0.17231 (4869/28258, 14KJPN)
G=0.17518 (2936/16760, 8.3KJPN)
G=0.1813 (1161/6404, 1000G_30x)
G=0.1837 (920/5008, 1000G)
G=0.1042 (467/4480, Estonian)
G=0.1767 (681/3854, ALSPAC)
G=0.1615 (599/3708, TWINSUK)
G=0.2003 (587/2930, KOREAN)
G=0.1387 (289/2084, HGDP_Stanford)
G=0.1422 (269/1892, HapMap)
G=0.165 (165/998, GoNL)
G=0.142 (85/600, NorthernSweden)
G=0.118 (63/536, SGDP_PRJ)
G=0.102 (22/216, Qatari)
G=0.206 (44/214, Vietnamese)
G=0.06 (4/68, Ancient Sardinia)
G=0.19 (10/54, Siberian)
G=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIGU : Intron Variant
Publications
3 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 83594 G=0.15850 A=0.84150
European Sub 62882 G=0.15542 A=0.84458
African Sub 5004 G=0.1641 A=0.8359
African Others Sub 180 G=0.128 A=0.872
African American Sub 4824 G=0.1654 A=0.8346
Asian Sub 256 G=0.191 A=0.809
East Asian Sub 210 G=0.190 A=0.810
Other Asian Sub 46 G=0.20 A=0.80
Latin American 1 Sub 340 G=0.103 A=0.897
Latin American 2 Sub 5400 G=0.0602 A=0.9398
South Asian Sub 4994 G=0.3026 A=0.6974
Other Sub 4718 G=0.1560 A=0.8440


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
TopMed Global Study-wide 264690 G=0.144652 A=0.855348
gnomAD - Genomes Global Study-wide 140028 G=0.147328 A=0.852672
gnomAD - Genomes European Sub 75856 G=0.15123 A=0.84877
gnomAD - Genomes African Sub 41940 G=0.16381 A=0.83619
gnomAD - Genomes American Sub 13638 G=0.08550 A=0.91450
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0824 A=0.9176
gnomAD - Genomes East Asian Sub 3124 G=0.1831 A=0.8169
gnomAD - Genomes Other Sub 2146 G=0.1286 A=0.8714
Allele Frequency Aggregator Total Global 83594 G=0.15850 A=0.84150
Allele Frequency Aggregator European Sub 62882 G=0.15542 A=0.84458
Allele Frequency Aggregator Latin American 2 Sub 5400 G=0.0602 A=0.9398
Allele Frequency Aggregator African Sub 5004 G=0.1641 A=0.8359
Allele Frequency Aggregator South Asian Sub 4994 G=0.3026 A=0.6974
Allele Frequency Aggregator Other Sub 4718 G=0.1560 A=0.8440
Allele Frequency Aggregator Latin American 1 Sub 340 G=0.103 A=0.897
Allele Frequency Aggregator Asian Sub 256 G=0.191 A=0.809
The PAGE Study Global Study-wide 78678 G=0.13370 A=0.86630
The PAGE Study AfricanAmerican Sub 32498 G=0.16487 A=0.83513
The PAGE Study Mexican Sub 10808 G=0.06236 A=0.93764
The PAGE Study Asian Sub 8316 G=0.1613 A=0.8387
The PAGE Study PuertoRican Sub 7916 G=0.0946 A=0.9054
The PAGE Study NativeHawaiian Sub 4534 G=0.1707 A=0.8293
The PAGE Study Cuban Sub 4230 G=0.1059 A=0.8941
The PAGE Study Dominican Sub 3828 G=0.1016 A=0.8984
The PAGE Study CentralAmerican Sub 2450 G=0.0747 A=0.9253
The PAGE Study SouthAmerican Sub 1982 G=0.0767 A=0.9233
The PAGE Study NativeAmerican Sub 1260 G=0.1508 A=0.8492
The PAGE Study SouthAsian Sub 856 G=0.305 A=0.695
14KJPN JAPANESE Study-wide 28258 G=0.17231 A=0.82769
8.3KJPN JAPANESE Study-wide 16760 G=0.17518 A=0.82482
1000Genomes_30x Global Study-wide 6404 G=0.1813 A=0.8187
1000Genomes_30x African Sub 1786 G=0.1579 A=0.8421
1000Genomes_30x Europe Sub 1266 G=0.1169 A=0.8831
1000Genomes_30x South Asian Sub 1202 G=0.3810 A=0.6190
1000Genomes_30x East Asian Sub 1170 G=0.1786 A=0.8214
1000Genomes_30x American Sub 980 G=0.065 A=0.935
1000Genomes Global Study-wide 5008 G=0.1837 A=0.8163
1000Genomes African Sub 1322 G=0.1566 A=0.8434
1000Genomes East Asian Sub 1008 G=0.1776 A=0.8224
1000Genomes Europe Sub 1006 G=0.1173 A=0.8827
1000Genomes South Asian Sub 978 G=0.382 A=0.618
1000Genomes American Sub 694 G=0.061 A=0.939
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1042 A=0.8958
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1767 A=0.8233
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1615 A=0.8385
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2003 A=0.7997, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.1387 A=0.8613
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.183 A=0.817
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.227 A=0.773
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.114 A=0.886
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.134 A=0.866
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.095 A=0.905
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.005 A=0.995
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.03 A=0.97
HapMap Global Study-wide 1892 G=0.1422 A=0.8578
HapMap American Sub 770 G=0.178 A=0.822
HapMap African Sub 692 G=0.129 A=0.871
HapMap Asian Sub 254 G=0.110 A=0.890
HapMap Europe Sub 176 G=0.085 A=0.915
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.165 A=0.835
Northern Sweden ACPOP Study-wide 600 G=0.142 A=0.858
SGDP_PRJ Global Study-wide 536 G=0.118 A=0.882
Qatari Global Study-wide 216 G=0.102 A=0.898
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.206 A=0.794
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 G=0.06 A=0.94
Siberian Global Study-wide 54 G=0.19 A=0.81
The Danish reference pan genome Danish Study-wide 40 G=0.17 A=0.82
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 20 NC_000020.11:g.34630286G>A
GRCh38.p14 chr 20 NC_000020.11:g.34630286G>C
GRCh37.p13 chr 20 NC_000020.10:g.33218090G>A
GRCh37.p13 chr 20 NC_000020.10:g.33218090G>C
PIGU RefSeqGene NG_011497.1:g.52000C>T
PIGU RefSeqGene NG_011497.1:g.52000C>G
Gene: PIGU, phosphatidylinositol glycan anchor biosynthesis class U (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PIGU transcript NM_080476.5:c.529+4329C>T N/A Intron Variant
PIGU transcript variant X1 XM_017027664.2:c.529+4329…

XM_017027664.2:c.529+4329C>T

 		N/A Intron Variant
PIGU transcript variant X2 XM_011528542.2:c. N/A Genic Upstream 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.

Not Reported in ClinVar
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 G= A C
GRCh38.p14 chr 20 NC_000020.11:g.34630286= NC_000020.11:g.34630286G>A NC_000020.11:g.34630286G>C
GRCh37.p13 chr 20 NC_000020.10:g.33218090= NC_000020.10:g.33218090G>A NC_000020.10:g.33218090G>C
PIGU RefSeqGene NG_011497.1:g.52000= NG_011497.1:g.52000C>T NG_011497.1:g.52000C>G
PIGU transcript NM_080476.4:c.529+4329= NM_080476.4:c.529+4329C>T NM_080476.4:c.529+4329C>G
PIGU transcript NM_080476.5:c.529+4329= NM_080476.5:c.529+4329C>T NM_080476.5:c.529+4329C>G
PIGU transcript variant X1 XM_005260279.1:c.529+4329= XM_005260279.1:c.529+4329C>T XM_005260279.1:c.529+4329C>G
PIGU transcript variant X2 XM_005260280.1:c.469+4329= XM_005260280.1:c.469+4329C>T XM_005260280.1:c.469+4329C>G
PIGU transcript variant X1 XM_017027664.2:c.529+4329= XM_017027664.2:c.529+4329C>T XM_017027664.2:c.529+4329C>G
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#.

121 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3337880 Sep 28, 2001 (100)
2 SC_SNP ss8372579 Apr 21, 2003 (114)
3 BCM_SSAHASNP ss10949553 Jul 11, 2003 (116)
4 WI_SSAHASNP ss12478391 Jul 11, 2003 (116)
5 CSHL-HAPMAP ss16885759 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss17689520 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss20120761 Feb 27, 2004 (120)
8 SSAHASNP ss21785502 Apr 05, 2004 (121)
9 ILLUMINA ss66645265 Nov 30, 2006 (127)
10 ILLUMINA ss67250332 Nov 30, 2006 (127)
11 ILLUMINA ss67647953 Nov 30, 2006 (127)
12 CSHL-HAPMAP ss68419758 Jan 12, 2007 (127)
13 ILLUMINA ss70728668 May 26, 2008 (130)
14 ILLUMINA ss71297865 May 17, 2007 (127)
15 ILLUMINA ss75502995 Dec 06, 2007 (129)
16 HGSV ss78316645 Dec 06, 2007 (129)
17 ILLUMINA ss79132388 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss84043310 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss91688372 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss96194096 Feb 06, 2009 (130)
21 BGI ss106186760 Feb 06, 2009 (130)
22 1000GENOMES ss111931908 Jan 25, 2009 (130)
23 1000GENOMES ss113287008 Jan 25, 2009 (130)
24 ILLUMINA-UK ss117532910 Feb 14, 2009 (130)
25 ILLUMINA ss122019758 Dec 01, 2009 (131)
26 ENSEMBL ss135723824 Dec 01, 2009 (131)
27 ENSEMBL ss138237995 Dec 01, 2009 (131)
28 ILLUMINA ss153908030 Dec 01, 2009 (131)
29 GMI ss156388334 Dec 01, 2009 (131)
30 ILLUMINA ss159385892 Dec 01, 2009 (131)
31 ILLUMINA ss161067485 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss168076398 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss169505559 Jul 04, 2010 (132)
34 ILLUMINA ss171228340 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss172051751 Jul 04, 2010 (132)
36 ILLUMINA ss173316142 Jul 04, 2010 (132)
37 BUSHMAN ss203877709 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss208722231 Jul 04, 2010 (132)
39 1000GENOMES ss228334522 Jul 14, 2010 (132)
40 1000GENOMES ss237819560 Jul 15, 2010 (132)
41 1000GENOMES ss243993057 Jul 15, 2010 (132)
42 BL ss255613517 May 09, 2011 (134)
43 GMI ss283368539 May 04, 2012 (137)
44 GMI ss287452914 Apr 25, 2013 (138)
45 PJP ss292644943 May 09, 2011 (134)
46 ILLUMINA ss479186482 Sep 08, 2015 (146)
47 ILLUMINA ss537084048 Sep 08, 2015 (146)
48 TISHKOFF ss566225503 Apr 25, 2013 (138)
49 SSMP ss662108187 Apr 25, 2013 (138)
50 ILLUMINA ss778700218 Sep 08, 2015 (146)
51 ILLUMINA ss825462906 Jul 19, 2016 (147)
52 ILLUMINA ss832897658 Jul 13, 2019 (153)
53 ILLUMINA ss834159141 Sep 08, 2015 (146)
54 EVA-GONL ss994686095 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1082179559 Aug 21, 2014 (142)
56 1000GENOMES ss1364635246 Aug 21, 2014 (142)
57 DDI ss1429045474 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1579494184 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1638707411 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1681701444 Apr 01, 2015 (144)
61 EVA_DECODE ss1698744809 Apr 01, 2015 (144)
62 EVA_SVP ss1713691215 Apr 01, 2015 (144)
63 HAMMER_LAB ss1809486775 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1938199379 Feb 12, 2016 (147)
65 ILLUMINA ss1959911568 Feb 12, 2016 (147)
66 GENOMED ss1969126583 Jul 19, 2016 (147)
67 JJLAB ss2029881818 Sep 14, 2016 (149)
68 ILLUMINA ss2095114080 Dec 20, 2016 (150)
69 USC_VALOUEV ss2158446090 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2242467355 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2629434762 Nov 08, 2017 (151)
72 ILLUMINA ss2633793624 Nov 08, 2017 (151)
73 GRF ss2704136163 Nov 08, 2017 (151)
74 GNOMAD ss2967032495 Nov 08, 2017 (151)
75 SWEGEN ss3018130788 Nov 08, 2017 (151)
76 ILLUMINA ss3022115222 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3028773845 Nov 08, 2017 (151)
78 CSHL ss3352497512 Nov 08, 2017 (151)
79 ILLUMINA ss3628382790 Oct 12, 2018 (152)
80 ILLUMINA ss3631750455 Oct 12, 2018 (152)
81 ILLUMINA ss3636526313 Oct 12, 2018 (152)
82 ILLUMINA ss3638343428 Oct 12, 2018 (152)
83 ILLUMINA ss3639175405 Oct 12, 2018 (152)
84 ILLUMINA ss3639601992 Oct 12, 2018 (152)
85 ILLUMINA ss3643306379 Oct 12, 2018 (152)
86 URBANLAB ss3651014567 Oct 12, 2018 (152)
87 ILLUMINA ss3652570237 Oct 12, 2018 (152)
88 EGCUT_WGS ss3684810323 Jul 13, 2019 (153)
89 EVA_DECODE ss3706879217 Jul 13, 2019 (153)
90 ILLUMINA ss3725911789 Jul 13, 2019 (153)
91 ACPOP ss3743366347 Jul 13, 2019 (153)
92 EVA ss3758600089 Jul 13, 2019 (153)
93 PAGE_CC ss3772045175 Jul 13, 2019 (153)
94 PACBIO ss3788639502 Jul 13, 2019 (153)
95 PACBIO ss3793533111 Jul 13, 2019 (153)
96 PACBIO ss3798420002 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3821768435 Jul 13, 2019 (153)
98 EVA ss3835656848 Apr 27, 2020 (154)
99 EVA ss3841454818 Apr 27, 2020 (154)
100 EVA ss3846967269 Apr 27, 2020 (154)
101 HGDP ss3847666056 Apr 27, 2020 (154)
102 SGDP_PRJ ss3889033376 Apr 27, 2020 (154)
103 KRGDB ss3939306496 Apr 27, 2020 (154)
104 EVA ss3985876865 Apr 26, 2021 (155)
105 EVA ss4017845808 Apr 26, 2021 (155)
106 TOPMED ss5087412389 Apr 26, 2021 (155)
107 TOMMO_GENOMICS ss5229488979 Apr 26, 2021 (155)
108 1000G_HIGH_COVERAGE ss5308679769 Oct 16, 2022 (156)
109 EVA ss5316004911 Oct 16, 2022 (156)
110 EVA ss5437183273 Oct 16, 2022 (156)
111 HUGCELL_USP ss5500968881 Oct 16, 2022 (156)
112 EVA ss5512206447 Oct 16, 2022 (156)
113 1000G_HIGH_COVERAGE ss5615082265 Oct 16, 2022 (156)
114 SANFORD_IMAGENETICS ss5663150324 Oct 16, 2022 (156)
115 TOMMO_GENOMICS ss5789238985 Oct 16, 2022 (156)
116 YY_MCH ss5818017779 Oct 16, 2022 (156)
117 EVA ss5845648778 Oct 16, 2022 (156)
118 EVA ss5853127567 Oct 16, 2022 (156)
119 EVA ss5923288608 Oct 16, 2022 (156)
120 EVA ss5958059998 Oct 16, 2022 (156)
121 EVA ss5981085038 Oct 16, 2022 (156)
122 1000Genomes NC_000020.10 - 33218090 Oct 12, 2018 (152)
123 1000Genomes_30x NC_000020.11 - 34630286 Oct 16, 2022 (156)
124 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 33218090 Oct 12, 2018 (152)
125 Genetic variation in the Estonian population NC_000020.10 - 33218090 Oct 12, 2018 (152)
126 The Danish reference pan genome NC_000020.10 - 33218090 Apr 27, 2020 (154)
127 gnomAD - Genomes NC_000020.11 - 34630286 Apr 26, 2021 (155)
128 Genome of the Netherlands Release 5 NC_000020.10 - 33218090 Apr 27, 2020 (154)
129 HGDP-CEPH-db Supplement 1 NC_000020.9 - 32681751 Apr 27, 2020 (154)
130 HapMap NC_000020.11 - 34630286 Apr 27, 2020 (154)
131 KOREAN population from KRGDB NC_000020.10 - 33218090 Apr 27, 2020 (154)
132 Northern Sweden NC_000020.10 - 33218090 Jul 13, 2019 (153)
133 The PAGE Study NC_000020.11 - 34630286 Jul 13, 2019 (153)
134 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 33218090 Apr 26, 2021 (155)
135 Qatari NC_000020.10 - 33218090 Apr 27, 2020 (154)
136 SGDP_PRJ NC_000020.10 - 33218090 Apr 27, 2020 (154)
137 Siberian NC_000020.10 - 33218090 Apr 27, 2020 (154)
138 8.3KJPN NC_000020.10 - 33218090 Apr 26, 2021 (155)
139 14KJPN NC_000020.11 - 34630286 Oct 16, 2022 (156)
140 TopMed NC_000020.11 - 34630286 Apr 26, 2021 (155)
141 UK 10K study - Twins NC_000020.10 - 33218090 Oct 12, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000020.10 - 33218090 Jul 13, 2019 (153)
143 ALFA NC_000020.11 - 34630286 Apr 26, 2021 (155)
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)
rs60690991 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
343948, ss78316645, ss91688372, ss111931908, ss113287008, ss117532910, ss168076398, ss169505559, ss172051751, ss203877709, ss208722231, ss255613517, ss283368539, ss287452914, ss292644943, ss825462906, ss1698744809, ss1713691215, ss3639175405, ss3639601992, ss3643306379, ss3847666056 NC_000020.9:32681750:G:A NC_000020.11:34630285:G:A (self)
78093833, 43227941, 30548571, 5659123, 19260356, 46483890, 16651212, 1102792, 20241301, 41050356, 10962444, 87458286, 43227941, 9540627, ss228334522, ss237819560, ss243993057, ss479186482, ss537084048, ss566225503, ss662108187, ss778700218, ss832897658, ss834159141, ss994686095, ss1082179559, ss1364635246, ss1429045474, ss1579494184, ss1638707411, ss1681701444, ss1809486775, ss1938199379, ss1959911568, ss1969126583, ss2029881818, ss2095114080, ss2158446090, ss2629434762, ss2633793624, ss2704136163, ss2967032495, ss3018130788, ss3022115222, ss3352497512, ss3628382790, ss3631750455, ss3636526313, ss3638343428, ss3652570237, ss3684810323, ss3743366347, ss3758600089, ss3788639502, ss3793533111, ss3798420002, ss3835656848, ss3841454818, ss3889033376, ss3939306496, ss3985876865, ss4017845808, ss5229488979, ss5316004911, ss5437183273, ss5512206447, ss5663150324, ss5845648778, ss5958059998, ss5981085038 NC_000020.10:33218089:G:A NC_000020.11:34630285:G:A (self)
102608200, 550861465, 2111252, 1266644, 123076089, 362521334, 10221520901, ss2242467355, ss3028773845, ss3651014567, ss3706879217, ss3725911789, ss3772045175, ss3821768435, ss3846967269, ss5087412389, ss5308679769, ss5500968881, ss5615082265, ss5789238985, ss5818017779, ss5853127567, ss5923288608 NC_000020.11:34630285:G:A NC_000020.11:34630285:G:A (self)
ss3337880, ss66645265, ss67250332, ss67647953, ss68419758, ss70728668, ss71297865, ss75502995, ss79132388, ss84043310, ss96194096, ss106186760, ss122019758, ss135723824, ss138237995, ss153908030, ss156388334, ss159385892, ss161067485, ss171228340, ss173316142 NT_011362.10:3414181:G:A NC_000020.11:34630285:G:A (self)
ss8372579, ss10949553, ss12478391, ss16885759, ss17689520, ss20120761, ss21785502 NT_028392.4:3384857:G:A NC_000020.11:34630285:G:A (self)
46483890, ss3939306496 NC_000020.10:33218089:G:C NC_000020.11:34630285:G:C (self)
Help

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

3 citations for rs2378249
PMID Title Author Year Journal
21197618 Model-based prediction of human hair color using DNA variants. Branicki W et al. 2011 Human genetics
26547235 Crowdsourced direct-to-consumer genomic analysis of a family quartet. Corpas M et al. 2015 BMC genomics
35176104 Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel. Rauf S et al. 2022 PloS one
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