Name: rs8051733
Published: September 21, 2022
License: Open Access

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.

rs8051733

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:89957798 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.302225 (79996/264690, TOPMED)
G=0.304627 (54516/178960, ALFA)
G=0.306309 (42912/140094, GnomAD) (+ 17 more)
G=0.27959 (22000/78688, PAGE_STUDY)
G=0.10107 (2856/28258, 14KJPN)
G=0.10328 (1731/16760, 8.3KJPN)
G=0.2758 (1766/6404, 1000G_30x)
G=0.2766 (1385/5008, 1000G)
G=0.3114 (1395/4480, Estonian)
G=0.3267 (1259/3854, ALSPAC)
G=0.3476 (1289/3708, TWINSUK)
G=0.1605 (469/2922, KOREAN)
G=0.289 (288/998, GoNL)
G=0.209 (165/788, PRJEB37584)
G=0.293 (176/600, NorthernSweden)
G=0.250 (74/296, HapMap)
A=0.414 (91/220, SGDP_PRJ)
G=0.347 (75/216, Qatari)
G=0.35 (14/40, GENOME_DK)
A=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DEF8 : Intron Variant
Publications: 0 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	183996	A=0.695031	G=0.304969
European	Sub	160794	A=0.691214	G=0.308786
African	Sub	7166	A=0.6578	G=0.3422
African Others	Sub	264	A=0.648	G=0.352
African American	Sub	6902	A=0.6582	G=0.3418
Asian	Sub	700	A=0.724	G=0.276
East Asian	Sub	568	A=0.754	G=0.246
Other Asian	Sub	132	A=0.598	G=0.402
Latin American 1	Sub	736	A=0.724	G=0.276
Latin American 2	Sub	6246	A=0.8361	G=0.1639
South Asian	Sub	190	A=0.774	G=0.226
Other	Sub	8164	A=0.6880	G=0.3120

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.697775	G=0.302225
Allele Frequency Aggregator	Total	Global	178960	A=0.695373	G=0.304627
Allele Frequency Aggregator	European	Sub	157700	A=0.691490	G=0.308510
Allele Frequency Aggregator	Other	Sub	7364	A=0.6852	G=0.3148
Allele Frequency Aggregator	Latin American 2	Sub	6246	A=0.8361	G=0.1639
Allele Frequency Aggregator	African	Sub	6024	A=0.6542	G=0.3458
Allele Frequency Aggregator	Latin American 1	Sub	736	A=0.724	G=0.276
Allele Frequency Aggregator	Asian	Sub	700	A=0.724	G=0.276
Allele Frequency Aggregator	South Asian	Sub	190	A=0.774	G=0.226
gnomAD - Genomes	Global	Study-wide	140094	A=0.693691	G=0.306309
gnomAD - Genomes	European	Sub	75898	A=0.69466	G=0.30534
gnomAD - Genomes	African	Sub	41958	A=0.65508	G=0.34492
gnomAD - Genomes	American	Sub	13652	A=0.80259	G=0.19741
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6647	G=0.3353
gnomAD - Genomes	East Asian	Sub	3116	A=0.7250	G=0.2750
gnomAD - Genomes	Other	Sub	2148	A=0.7211	G=0.2789
The PAGE Study	Global	Study-wide	78688	A=0.72041	G=0.27959
The PAGE Study	AfricanAmerican	Sub	32510	A=0.65478	G=0.34522
The PAGE Study	Mexican	Sub	10810	A=0.82646	G=0.17354
The PAGE Study	Asian	Sub	8316	A=0.8534	G=0.1466
The PAGE Study	PuertoRican	Sub	7916	A=0.7285	G=0.2715
The PAGE Study	NativeHawaiian	Sub	4532	A=0.5086	G=0.4914
The PAGE Study	Cuban	Sub	4230	A=0.7648	G=0.2352
The PAGE Study	Dominican	Sub	3826	A=0.7243	G=0.2757
The PAGE Study	CentralAmerican	Sub	2450	A=0.8302	G=0.1698
The PAGE Study	SouthAmerican	Sub	1982	A=0.8451	G=0.1549
The PAGE Study	NativeAmerican	Sub	1260	A=0.7278	G=0.2722
The PAGE Study	SouthAsian	Sub	856	A=0.778	G=0.222
14KJPN	JAPANESE	Study-wide	28258	A=0.89893	G=0.10107
8.3KJPN	JAPANESE	Study-wide	16760	A=0.89672	G=0.10328
1000Genomes_30x	Global	Study-wide	6404	A=0.7242	G=0.2758
1000Genomes_30x	African	Sub	1786	A=0.6545	G=0.3455
1000Genomes_30x	Europe	Sub	1266	A=0.7259	G=0.2741
1000Genomes_30x	South Asian	Sub	1202	A=0.7529	G=0.2471
1000Genomes_30x	East Asian	Sub	1170	A=0.7137	G=0.2863
1000Genomes_30x	American	Sub	980	A=0.827	G=0.173
1000Genomes	Global	Study-wide	5008	A=0.7234	G=0.2766
1000Genomes	African	Sub	1322	A=0.6513	G=0.3487
1000Genomes	East Asian	Sub	1008	A=0.7222	G=0.2778
1000Genomes	Europe	Sub	1006	A=0.7247	G=0.2753
1000Genomes	South Asian	Sub	978	A=0.747	G=0.253
1000Genomes	American	Sub	694	A=0.827	G=0.173
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6886	G=0.3114
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6733	G=0.3267
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6524	G=0.3476
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8395	G=0.1605
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.711	G=0.289
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.791	G=0.209
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.791	G=0.209
Northern Sweden	ACPOP	Study-wide	600	A=0.707	G=0.293
HapMap	Global	Study-wide	296	A=0.750	G=0.250
HapMap	African	Sub	106	A=0.689	G=0.311
HapMap	American	Sub	102	A=0.696	G=0.304
HapMap	Asian	Sub	88	A=0.89	G=0.11
SGDP_PRJ	Global	Study-wide	220	A=0.414	G=0.586
Qatari	Global	Study-wide	216	A=0.653	G=0.347
The Danish reference pan genome	Danish	Study-wide	40	A=0.65	G=0.35
Siberian	Global	Study-wide	22	A=0.36	G=0.64

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 16	NC_000016.10:g.89957798A>G
GRCh37.p13 chr 16	NC_000016.9:g.90024206A>G

Gene: DEF8, differentially expressed in FDCP 8 homolog (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DEF8 transcript variant 3	NM_001242816.2:c.342+138A… NM_001242816.2:c.342+138A>G	N/A	Intron Variant
DEF8 transcript variant 4	NM_001242817.2:c.192+138A… NM_001242817.2:c.192+138A>G	N/A	Intron Variant
DEF8 transcript variant 5	NM_001242818.2:c.372+138A… NM_001242818.2:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 6	NM_001242819.1:c.372+138A… NM_001242819.1:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 7	NM_001242820.2:c.372+138A… NM_001242820.2:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 8	NM_001242821.2:c.372+138A… NM_001242821.2:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 9	NM_001242822.2:c.372+138A… NM_001242822.2:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 2	NM_017702.4:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant 1	NM_207514.3:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X6	XM_005256318.4:c.372+138A… XM_005256318.4:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X1	XM_011523156.4:c.372+138A… XM_011523156.4:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X2	XM_011523157.4:c.372+138A… XM_011523157.4:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X4	XM_011523158.3:c.372+138A… XM_011523158.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X8	XM_011523159.4:c.474+138A… XM_011523159.4:c.474+138A>G	N/A	Intron Variant
DEF8 transcript variant X9	XM_011523160.4:c.555+138A… XM_011523160.4:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X10	XM_011523161.4:c.555+138A… XM_011523161.4:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X17	XM_011523162.4:c.372+138A… XM_011523162.4:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X3	XM_017023358.3:c.372+138A… XM_017023358.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X5	XM_017023359.3:c.372+138A… XM_017023359.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X7	XM_017023360.3:c.372+138A… XM_017023360.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X11	XM_017023361.3:c.474+138A… XM_017023361.3:c.474+138A>G	N/A	Intron Variant
DEF8 transcript variant X12	XM_017023362.3:c.474+138A… XM_017023362.3:c.474+138A>G	N/A	Intron Variant
DEF8 transcript variant X13	XM_017023363.2:c.555+138A… XM_017023363.2:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X14	XM_017023364.3:c.474+138A… XM_017023364.3:c.474+138A>G	N/A	Intron Variant
DEF8 transcript variant X15	XM_017023365.2:c.555+138A… XM_017023365.2:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X18	XM_017023366.3:c.372+138A… XM_017023366.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X19	XM_017023367.3:c.372+138A… XM_017023367.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X21	XM_017023369.3:c.372+138A… XM_017023369.3:c.372+138A>G	N/A	Intron Variant
DEF8 transcript variant X16	XM_047434272.1:c.555+138A… XM_047434272.1:c.555+138A>G	N/A	Intron Variant
DEF8 transcript variant X20	XM_047434273.1:c.372+138A… XM_047434273.1:c.372+138A>G	N/A	Intron Variant

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

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	A=	G
GRCh38.p14 chr 16	NC_000016.10:g.89957798=	NC_000016.10:g.89957798A>G
GRCh37.p13 chr 16	NC_000016.9:g.90024206=	NC_000016.9:g.90024206A>G
DEF8 transcript variant 3	NM_001242816.1:c.342+138=	NM_001242816.1:c.342+138A>G
DEF8 transcript variant 3	NM_001242816.2:c.342+138=	NM_001242816.2:c.342+138A>G
DEF8 transcript variant 4	NM_001242817.1:c.192+138=	NM_001242817.1:c.192+138A>G
DEF8 transcript variant 4	NM_001242817.2:c.192+138=	NM_001242817.2:c.192+138A>G
DEF8 transcript variant 5	NM_001242818.1:c.372+138=	NM_001242818.1:c.372+138A>G
DEF8 transcript variant 5	NM_001242818.2:c.372+138=	NM_001242818.2:c.372+138A>G
DEF8 transcript variant 6	NM_001242819.1:c.372+138=	NM_001242819.1:c.372+138A>G
DEF8 transcript variant 7	NM_001242820.1:c.372+138=	NM_001242820.1:c.372+138A>G
DEF8 transcript variant 7	NM_001242820.2:c.372+138=	NM_001242820.2:c.372+138A>G
DEF8 transcript variant 8	NM_001242821.1:c.372+138=	NM_001242821.1:c.372+138A>G
DEF8 transcript variant 8	NM_001242821.2:c.372+138=	NM_001242821.2:c.372+138A>G
DEF8 transcript variant 9	NM_001242822.1:c.372+138=	NM_001242822.1:c.372+138A>G
DEF8 transcript variant 9	NM_001242822.2:c.372+138=	NM_001242822.2:c.372+138A>G
DEF8 transcript variant 2	NM_017702.3:c.372+138=	NM_017702.3:c.372+138A>G
DEF8 transcript variant 2	NM_017702.4:c.372+138=	NM_017702.4:c.372+138A>G
DEF8 transcript variant 1	NM_207514.2:c.555+138=	NM_207514.2:c.555+138A>G
DEF8 transcript variant 1	NM_207514.3:c.555+138=	NM_207514.3:c.555+138A>G
DEF8 transcript variant X1	XM_005256316.1:c.681+138=	XM_005256316.1:c.681+138A>G
DEF8 transcript variant X2	XM_005256317.1:c.651+138=	XM_005256317.1:c.651+138A>G
DEF8 transcript variant X3	XM_005256318.1:c.681+138=	XM_005256318.1:c.681+138A>G
DEF8 transcript variant X6	XM_005256318.4:c.372+138=	XM_005256318.4:c.372+138A>G
DEF8 transcript variant X4	XM_005256319.1:c.372+138=	XM_005256319.1:c.372+138A>G
DEF8 transcript variant X1	XM_011523156.4:c.372+138=	XM_011523156.4:c.372+138A>G
DEF8 transcript variant X2	XM_011523157.4:c.372+138=	XM_011523157.4:c.372+138A>G
DEF8 transcript variant X4	XM_011523158.3:c.372+138=	XM_011523158.3:c.372+138A>G
DEF8 transcript variant X8	XM_011523159.4:c.474+138=	XM_011523159.4:c.474+138A>G
DEF8 transcript variant X9	XM_011523160.4:c.555+138=	XM_011523160.4:c.555+138A>G
DEF8 transcript variant X10	XM_011523161.4:c.555+138=	XM_011523161.4:c.555+138A>G
DEF8 transcript variant X17	XM_011523162.4:c.372+138=	XM_011523162.4:c.372+138A>G
DEF8 transcript variant X3	XM_017023358.3:c.372+138=	XM_017023358.3:c.372+138A>G
DEF8 transcript variant X5	XM_017023359.3:c.372+138=	XM_017023359.3:c.372+138A>G
DEF8 transcript variant X7	XM_017023360.3:c.372+138=	XM_017023360.3:c.372+138A>G
DEF8 transcript variant X11	XM_017023361.3:c.474+138=	XM_017023361.3:c.474+138A>G
DEF8 transcript variant X12	XM_017023362.3:c.474+138=	XM_017023362.3:c.474+138A>G
DEF8 transcript variant X13	XM_017023363.2:c.555+138=	XM_017023363.2:c.555+138A>G
DEF8 transcript variant X14	XM_017023364.3:c.474+138=	XM_017023364.3:c.474+138A>G
DEF8 transcript variant X15	XM_017023365.2:c.555+138=	XM_017023365.2:c.555+138A>G
DEF8 transcript variant X18	XM_017023366.3:c.372+138=	XM_017023366.3:c.372+138A>G
DEF8 transcript variant X19	XM_017023367.3:c.372+138=	XM_017023367.3:c.372+138A>G
DEF8 transcript variant X21	XM_017023369.3:c.372+138=	XM_017023369.3:c.372+138A>G
DEF8 transcript variant X16	XM_047434272.1:c.555+138=	XM_047434272.1:c.555+138A>G
DEF8 transcript variant X20	XM_047434273.1:c.372+138=	XM_047434273.1:c.372+138A>G

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#.

95 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12361065	Jul 11, 2003 (116)
2	BGI	ss103323860	Dec 01, 2009 (131)
3	GMI	ss157737672	Dec 01, 2009 (131)
4	ILLUMINA	ss160944239	Dec 01, 2009 (131)
5	COMPLETE_GENOMICS	ss168672724	Jul 04, 2010 (132)
6	COMPLETE_GENOMICS	ss171740801	Jul 04, 2010 (132)
7	BUSHMAN	ss202102589	Jul 04, 2010 (132)
8	1000GENOMES	ss227419713	Jul 14, 2010 (132)
9	1000GENOMES	ss237151052	Jul 15, 2010 (132)
10	1000GENOMES	ss243467276	Jul 15, 2010 (132)
11	GMI	ss282657050	May 04, 2012 (137)
12	ILLUMINA	ss481766263	May 04, 2012 (137)
13	ILLUMINA	ss481798459	May 04, 2012 (137)
14	ILLUMINA	ss482761287	Sep 08, 2015 (146)
15	ILLUMINA	ss485677913	May 04, 2012 (137)
16	ILLUMINA	ss537549200	Sep 08, 2015 (146)
17	TISHKOFF	ss565112856	Apr 25, 2013 (138)
18	SSMP	ss660892294	Apr 25, 2013 (138)
19	ILLUMINA	ss778996058	Sep 08, 2015 (146)
20	ILLUMINA	ss783284522	Sep 08, 2015 (146)
21	ILLUMINA	ss784237412	Sep 08, 2015 (146)
22	ILLUMINA	ss832545700	Sep 08, 2015 (146)
23	ILLUMINA	ss834458361	Sep 08, 2015 (146)
24	EVA-GONL	ss992831128	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1080870078	Aug 21, 2014 (142)
26	1000GENOMES	ss1357563025	Aug 21, 2014 (142)
27	DDI	ss1427948873	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1578051646	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1635117950	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1678111983	Apr 01, 2015 (144)
31	EVA_DECODE	ss1696872681	Apr 01, 2015 (144)
32	ILLUMINA	ss1752213167	Sep 08, 2015 (146)
33	HAMMER_LAB	ss1808663080	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1936273425	Feb 12, 2016 (147)
35	ILLUMINA	ss1946424269	Feb 12, 2016 (147)
36	ILLUMINA	ss1959711691	Feb 12, 2016 (147)
37	JJLAB	ss2028926502	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2157368096	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2214827296	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2628953476	Nov 08, 2017 (151)
41	ILLUMINA	ss2633363398	Nov 08, 2017 (151)
42	GRF	ss2701904812	Nov 08, 2017 (151)
43	ILLUMINA	ss2710841635	Nov 08, 2017 (151)
44	GNOMAD	ss2946706558	Nov 08, 2017 (151)
45	SWEGEN	ss3015041962	Nov 08, 2017 (151)
46	ILLUMINA	ss3021742154	Nov 08, 2017 (151)
47	BIOINF_KMB_FNS_UNIBA	ss3028280932	Nov 08, 2017 (151)
48	CSHL	ss3351606686	Nov 08, 2017 (151)
49	ILLUMINA	ss3625702182	Oct 12, 2018 (152)
50	ILLUMINA	ss3627603054	Oct 12, 2018 (152)
51	ILLUMINA	ss3631346787	Oct 12, 2018 (152)
52	ILLUMINA	ss3633132174	Oct 12, 2018 (152)
53	ILLUMINA	ss3633839005	Oct 12, 2018 (152)
54	ILLUMINA	ss3634658715	Oct 12, 2018 (152)
55	ILLUMINA	ss3635527028	Oct 12, 2018 (152)
56	ILLUMINA	ss3636350110	Oct 12, 2018 (152)
57	ILLUMINA	ss3637278523	Oct 12, 2018 (152)
58	ILLUMINA	ss3640366035	Oct 12, 2018 (152)
59	ILLUMINA	ss3644677350	Oct 12, 2018 (152)
60	ILLUMINA	ss3652154557	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3682019856	Jul 13, 2019 (153)
62	EVA_DECODE	ss3699906542	Jul 13, 2019 (153)
63	ILLUMINA	ss3725591537	Jul 13, 2019 (153)
64	ACPOP	ss3741792320	Jul 13, 2019 (153)
65	ILLUMINA	ss3744145901	Jul 13, 2019 (153)
66	ILLUMINA	ss3744959078	Jul 13, 2019 (153)
67	EVA	ss3754343584	Jul 13, 2019 (153)
68	PAGE_CC	ss3771903593	Jul 13, 2019 (153)
69	ILLUMINA	ss3772457183	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3819613862	Jul 13, 2019 (153)
71	EVA	ss3834732426	Apr 27, 2020 (154)
72	EVA	ss3840973525	Apr 27, 2020 (154)
73	EVA	ss3846467274	Apr 27, 2020 (154)
74	SGDP_PRJ	ss3885137666	Apr 27, 2020 (154)
75	KRGDB	ss3934703296	Apr 27, 2020 (154)
76	FSA-LAB	ss3984102705	Apr 26, 2021 (155)
77	EVA	ss3984718283	Apr 26, 2021 (155)
78	EVA	ss4017752250	Apr 26, 2021 (155)
79	TOPMED	ss5026635660	Apr 26, 2021 (155)
80	TOMMO_GENOMICS	ss5221068788	Apr 26, 2021 (155)
81	1000G_HIGH_COVERAGE	ss5302108722	Oct 17, 2022 (156)
82	EVA	ss5315865875	Oct 17, 2022 (156)
83	EVA	ss5425827151	Oct 17, 2022 (156)
84	HUGCELL_USP	ss5495329478	Oct 17, 2022 (156)
85	EVA	ss5511703871	Oct 17, 2022 (156)
86	1000G_HIGH_COVERAGE	ss5605331397	Oct 17, 2022 (156)
87	SANFORD_IMAGENETICS	ss5659546142	Oct 17, 2022 (156)
88	TOMMO_GENOMICS	ss5776522572	Oct 17, 2022 (156)
89	EVA	ss5800204275	Oct 17, 2022 (156)
90	YY_MCH	ss5816253328	Oct 17, 2022 (156)
91	EVA	ss5846860882	Oct 17, 2022 (156)
92	EVA	ss5847783851	Oct 17, 2022 (156)
93	EVA	ss5851702401	Oct 17, 2022 (156)
94	EVA	ss5900404361	Oct 17, 2022 (156)
95	EVA	ss5950960927	Oct 17, 2022 (156)
96	1000Genomes	NC_000016.9 - 90024206	Oct 12, 2018 (152)
97	1000Genomes_30x	NC_000016.10 - 89957798	Oct 17, 2022 (156)
98	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 90024206	Oct 12, 2018 (152)
99	Genetic variation in the Estonian population	NC_000016.9 - 90024206	Oct 12, 2018 (152)
100	The Danish reference pan genome	NC_000016.9 - 90024206	Apr 27, 2020 (154)
101	gnomAD - Genomes	NC_000016.10 - 89957798	Apr 26, 2021 (155)
102	Genome of the Netherlands Release 5	NC_000016.9 - 90024206	Apr 27, 2020 (154)
103	HapMap	NC_000016.10 - 89957798	Apr 27, 2020 (154)
104	KOREAN population from KRGDB	NC_000016.9 - 90024206	Apr 27, 2020 (154)
105	Northern Sweden	NC_000016.9 - 90024206	Jul 13, 2019 (153)
106	The PAGE Study	NC_000016.10 - 89957798	Jul 13, 2019 (153)
107	CNV burdens in cranial meningiomas	NC_000016.9 - 90024206	Apr 26, 2021 (155)
108	Qatari	NC_000016.9 - 90024206	Apr 27, 2020 (154)
109	SGDP_PRJ	NC_000016.9 - 90024206	Apr 27, 2020 (154)
110	Siberian	NC_000016.9 - 90024206	Apr 27, 2020 (154)
111	8.3KJPN	NC_000016.9 - 90024206	Apr 26, 2021 (155)
112	14KJPN	NC_000016.10 - 89957798	Oct 17, 2022 (156)
113	TopMed	NC_000016.10 - 89957798	Apr 26, 2021 (155)
114	UK 10K study - Twins	NC_000016.9 - 90024206	Oct 12, 2018 (152)
115	ALFA	NC_000016.10 - 89957798	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss168672724, ss171740801, ss202102589, ss282657050, ss481766263, ss1696872681	NC_000016.8:88551706:A:G	NC_000016.10:89957797:A:G	(self)
70764408, 39254262, 27758104, 4258335, 17498318, 41880690, 15077185, 267822, 18315347, 37154646, 9884450, 79038095, 39254262, ss227419713, ss237151052, ss243467276, ss481798459, ss482761287, ss485677913, ss537549200, ss565112856, ss660892294, ss778996058, ss783284522, ss784237412, ss832545700, ss834458361, ss992831128, ss1080870078, ss1357563025, ss1427948873, ss1578051646, ss1635117950, ss1678111983, ss1752213167, ss1808663080, ss1936273425, ss1946424269, ss1959711691, ss2028926502, ss2157368096, ss2628953476, ss2633363398, ss2701904812, ss2710841635, ss2946706558, ss3015041962, ss3021742154, ss3351606686, ss3625702182, ss3627603054, ss3631346787, ss3633132174, ss3633839005, ss3634658715, ss3635527028, ss3636350110, ss3637278523, ss3640366035, ss3644677350, ss3652154557, ss3682019856, ss3741792320, ss3744145901, ss3744959078, ss3754343584, ss3772457183, ss3834732426, ss3840973525, ss3885137666, ss3934703296, ss3984102705, ss3984718283, ss4017752250, ss5221068788, ss5315865875, ss5425827151, ss5511703871, ss5659546142, ss5800204275, ss5846860882, ss5847783851, ss5950960927	NC_000016.9:90024205:A:G	NC_000016.10:89957797:A:G	(self)
92857332, 499008092, 1443760, 1125062, 110359676, 242181321, 5046958332, ss2214827296, ss3028280932, ss3699906542, ss3725591537, ss3771903593, ss3819613862, ss3846467274, ss5026635660, ss5302108722, ss5495329478, ss5605331397, ss5776522572, ss5816253328, ss5851702401, ss5900404361	NC_000016.10:89957797:A:G	NC_000016.10:89957797:A:G	(self)
ss12361065	NT_010542.13:1579904:A:G	NC_000016.10:89957797:A:G	(self)
ss103323860, ss157737672, ss160944239	NT_010542.15:1584822:A:G	NC_000016.10:89957797:A:G	(self)

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

No publications for rs8051733

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8051733