Name: rs1280099
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.

rs1280099

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:186617176 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.477585 (126412/264690, TOPMED)
A=0.439778 (107196/243750, GnomAD_exome)
A=0.455465 (103406/227034, ALFA) (+ 24 more)
A=0.472659 (66125/139900, GnomAD)
A=0.439829 (52805/120058, ExAC)
A=0.31216 (8821/28258, 14KJPN)
A=0.31420 (5266/16760, 8.3KJPN)
A=0.47547 (5620/11820, GO-ESP)
A=0.4207 (2694/6404, 1000G_30x)
A=0.4161 (2084/5008, 1000G)
A=0.4174 (1870/4480, Estonian)
A=0.4453 (1716/3854, ALSPAC)
A=0.4598 (1705/3708, TWINSUK)
A=0.3539 (1037/2930, KOREAN)
A=0.4595 (954/2076, HGDP_Stanford)
A=0.3532 (647/1832, Korea1K)
G=0.4980 (750/1506, HapMap)
A=0.441 (440/998, GoNL)
A=0.468 (281/600, NorthernSweden)
A=0.496 (265/534, MGP)
G=0.321 (122/380, SGDP_PRJ)
A=0.474 (144/304, FINRISK)
A=0.389 (84/216, Qatari)
A=0.238 (51/214, Vietnamese)
A=0.28 (14/50, Ancient Sardinia)
A=0.42 (17/40, GENOME_DK)
G=0.38 (15/40, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FAT1 : Synonymous 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	243332	G=0.542604	A=0.457396
European	Sub	206634	G=0.545264	A=0.454736
African	Sub	12498	G=0.46079	A=0.53921
African Others	Sub	452	G=0.387	A=0.613
African American	Sub	12046	G=0.46356	A=0.53644
Asian	Sub	752	G=0.709	A=0.291
East Asian	Sub	576	G=0.714	A=0.286
Other Asian	Sub	176	G=0.693	A=0.307
Latin American 1	Sub	1132	G=0.5442	A=0.4558
Latin American 2	Sub	2844	G=0.5102	A=0.4898
South Asian	Sub	5034	G=0.6458	A=0.3542
Other	Sub	14438	G=0.53699	A=0.46301

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	G=0.522415	A=0.477585
gnomAD - Exomes	Global	Study-wide	243750	G=0.560222	A=0.439778
gnomAD - Exomes	European	Sub	132544	G=0.549961	A=0.450039
gnomAD - Exomes	Asian	Sub	46908	G=0.67788	A=0.32212
gnomAD - Exomes	American	Sub	33214	G=0.49368	A=0.50632
gnomAD - Exomes	African	Sub	15330	G=0.46138	A=0.53862
gnomAD - Exomes	Ashkenazi Jewish	Sub	9854	G=0.5232	A=0.4768
gnomAD - Exomes	Other	Sub	5900	G=0.5485	A=0.4515
Allele Frequency Aggregator	Total	Global	227034	G=0.544535	A=0.455465
Allele Frequency Aggregator	European	Sub	196578	G=0.545402	A=0.454598
Allele Frequency Aggregator	Other	Sub	13010	G=0.53897	A=0.46103
Allele Frequency Aggregator	African	Sub	7684	G=0.4621	A=0.5379
Allele Frequency Aggregator	South Asian	Sub	5034	G=0.6458	A=0.3542
Allele Frequency Aggregator	Latin American 2	Sub	2844	G=0.5102	A=0.4898
Allele Frequency Aggregator	Latin American 1	Sub	1132	G=0.5442	A=0.4558
Allele Frequency Aggregator	Asian	Sub	752	G=0.709	A=0.291
gnomAD - Genomes	Global	Study-wide	139900	G=0.527341	A=0.472659
gnomAD - Genomes	European	Sub	75780	G=0.55143	A=0.44857
gnomAD - Genomes	African	Sub	41900	G=0.46897	A=0.53103
gnomAD - Genomes	American	Sub	13622	G=0.51982	A=0.48018
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.5367	A=0.4633
gnomAD - Genomes	East Asian	Sub	3132	G=0.7375	A=0.2625
gnomAD - Genomes	Other	Sub	2146	G=0.5429	A=0.4571
ExAC	Global	Study-wide	120058	G=0.560171	A=0.439829
ExAC	Europe	Sub	72994	G=0.54846	A=0.45154
ExAC	Asian	Sub	24872	G=0.66975	A=0.33025
ExAC	American	Sub	11518	G=0.48142	A=0.51858
ExAC	African	Sub	9786	G=0.4598	A=0.5402
ExAC	Other	Sub	888	G=0.581	A=0.419
14KJPN	JAPANESE	Study-wide	28258	G=0.68784	A=0.31216
8.3KJPN	JAPANESE	Study-wide	16760	G=0.68580	A=0.31420
GO Exome Sequencing Project	Global	Study-wide	11820	G=0.52453	A=0.47547
GO Exome Sequencing Project	European American	Sub	8166	G=0.5519	A=0.4481
GO Exome Sequencing Project	African American	Sub	3654	G=0.4633	A=0.5367
1000Genomes_30x	Global	Study-wide	6404	G=0.5793	A=0.4207
1000Genomes_30x	African	Sub	1786	G=0.4602	A=0.5398
1000Genomes_30x	Europe	Sub	1266	G=0.5300	A=0.4700
1000Genomes_30x	South Asian	Sub	1202	G=0.7030	A=0.2970
1000Genomes_30x	East Asian	Sub	1170	G=0.7162	A=0.2838
1000Genomes_30x	American	Sub	980	G=0.545	A=0.455
1000Genomes	Global	Study-wide	5008	G=0.5839	A=0.4161
1000Genomes	African	Sub	1322	G=0.4576	A=0.5424
1000Genomes	East Asian	Sub	1008	G=0.7192	A=0.2808
1000Genomes	Europe	Sub	1006	G=0.5338	A=0.4662
1000Genomes	South Asian	Sub	978	G=0.703	A=0.297
1000Genomes	American	Sub	694	G=0.532	A=0.468
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5826	A=0.4174
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5547	A=0.4453
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5402	A=0.4598
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6461	A=0.3539, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2076	G=0.5405	A=0.4595
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	466	G=0.642	A=0.358
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.614	A=0.386
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.520	A=0.480
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.500	A=0.500
HGDP-CEPH-db Supplement 1	Africa	Sub	238	G=0.454	A=0.546
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.347	A=0.653
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.61	A=0.39
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6468	A=0.3532
HapMap	Global	Study-wide	1506	G=0.4980	A=0.5020
HapMap	African	Sub	680	G=0.390	A=0.610
HapMap	American	Sub	486	G=0.588	A=0.412
HapMap	Asian	Sub	170	G=0.676	A=0.324
HapMap	Europe	Sub	170	G=0.494	A=0.506
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.559	A=0.441
Northern Sweden	ACPOP	Study-wide	600	G=0.532	A=0.468
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.504	A=0.496
SGDP_PRJ	Global	Study-wide	380	G=0.321	A=0.679
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.526	A=0.474
Qatari	Global	Study-wide	216	G=0.611	A=0.389
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.762	A=0.238
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	50	G=0.72	A=0.28
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	A=0.42
Siberian	Global	Study-wide	40	G=0.38	A=0.62

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 4	NC_000004.12:g.186617176G>A
GRCh38.p14 chr 4	NC_000004.12:g.186617176G>T
GRCh37.p13 chr 4	NC_000004.11:g.187538330G>A
GRCh37.p13 chr 4	NC_000004.11:g.187538330G>T
FAT1 RefSeqGene	NG_046994.1:g.114740C>T
FAT1 RefSeqGene	NG_046994.1:g.114740C>A
LOC126807255 genomic region	NG_083576.1:g.229G>A
LOC126807255 genomic region	NG_083576.1:g.229G>T

Gene: FAT1, FAT atypical cadherin 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAT1 transcript	NM_005245.4:c.8904C>T	A [GCC] > A [GCT]	Coding Sequence Variant
protocadherin Fat 1 precursor	NP_005236.2:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript	NM_005245.4:c.8904C>A	A [GCC] > A [GCA]	Coding Sequence Variant
protocadherin Fat 1 precursor	NP_005236.2:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X1	XM_005262834.4:c.8904C>T	A [GCC] > A [GCT]	Coding Sequence Variant
protocadherin Fat 1 isoform X1	XP_005262891.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X1	XM_005262834.4:c.8904C>A	A [GCC] > A [GCA]	Coding Sequence Variant
protocadherin Fat 1 isoform X1	XP_005262891.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X2	XM_005262835.3:c.8904C>T	A [GCC] > A [GCT]	Coding Sequence Variant
protocadherin Fat 1 isoform X1	XP_005262892.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X2	XM_005262835.3:c.8904C>A	A [GCC] > A [GCA]	Coding Sequence Variant
protocadherin Fat 1 isoform X1	XP_005262892.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X3	XM_006714139.4:c.8904C>T	A [GCC] > A [GCT]	Coding Sequence Variant
protocadherin Fat 1 isoform X2	XP_006714202.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous Variant
FAT1 transcript variant X3	XM_006714139.4:c.8904C>A	A [GCC] > A [GCA]	Coding Sequence Variant
protocadherin Fat 1 isoform X2	XP_006714202.1:p.Ala2968=	A (Ala) > A (Ala)	Synonymous 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.

Allele: A (allele ID: 1228947 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001637789.6	not provided	Benign

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	T
GRCh38.p14 chr 4	NC_000004.12:g.186617176=	NC_000004.12:g.186617176G>A	NC_000004.12:g.186617176G>T
GRCh37.p13 chr 4	NC_000004.11:g.187538330=	NC_000004.11:g.187538330G>A	NC_000004.11:g.187538330G>T
FAT1 RefSeqGene	NG_046994.1:g.114740=	NG_046994.1:g.114740C>T	NG_046994.1:g.114740C>A
FAT1 transcript	NM_005245.4:c.8904=	NM_005245.4:c.8904C>T	NM_005245.4:c.8904C>A
FAT1 transcript	NM_005245.3:c.8904=	NM_005245.3:c.8904C>T	NM_005245.3:c.8904C>A
LOC126807255 genomic region	NG_083576.1:g.229=	NG_083576.1:g.229G>A	NG_083576.1:g.229G>T
FAT1 transcript variant X1	XM_005262834.4:c.8904=	XM_005262834.4:c.8904C>T	XM_005262834.4:c.8904C>A
FAT1 transcript variant X1	XM_005262834.3:c.8904=	XM_005262834.3:c.8904C>T	XM_005262834.3:c.8904C>A
FAT1 transcript variant X1	XM_005262834.2:c.8904=	XM_005262834.2:c.8904C>T	XM_005262834.2:c.8904C>A
FAT1 transcript variant X1	XM_005262834.1:c.8904=	XM_005262834.1:c.8904C>T	XM_005262834.1:c.8904C>A
FAT1 transcript variant X3	XM_006714139.4:c.8904=	XM_006714139.4:c.8904C>T	XM_006714139.4:c.8904C>A
FAT1 transcript variant X3	XM_006714139.3:c.8904=	XM_006714139.3:c.8904C>T	XM_006714139.3:c.8904C>A
FAT1 transcript variant X3	XM_006714139.2:c.8904=	XM_006714139.2:c.8904C>T	XM_006714139.2:c.8904C>A
FAT1 transcript variant X3	XM_006714139.1:c.8904=	XM_006714139.1:c.8904C>T	XM_006714139.1:c.8904C>A
FAT1 transcript variant X2	XM_005262835.3:c.8904=	XM_005262835.3:c.8904C>T	XM_005262835.3:c.8904C>A
FAT1 transcript variant X2	XM_005262835.2:c.8904=	XM_005262835.2:c.8904C>T	XM_005262835.2:c.8904C>A
FAT1 transcript variant X2	XM_005262835.1:c.8904=	XM_005262835.1:c.8904C>T	XM_005262835.1:c.8904C>A
protocadherin Fat 1 precursor	NP_005236.2:p.Ala2968=	NP_005236.2:p.Ala2968=	NP_005236.2:p.Ala2968=
protocadherin Fat 1 isoform X1	XP_005262891.1:p.Ala2968=	XP_005262891.1:p.Ala2968=	XP_005262891.1:p.Ala2968=
protocadherin Fat 1 isoform X2	XP_006714202.1:p.Ala2968=	XP_006714202.1:p.Ala2968=	XP_006714202.1:p.Ala2968=
protocadherin Fat 1 isoform X1	XP_005262892.1:p.Ala2968=	XP_005262892.1:p.Ala2968=	XP_005262892.1:p.Ala2968=

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#.

150 SubSNP, 27 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss2004917	Oct 18, 2000 (87)
2	TSC-CSHL	ss2750265	Jan 22, 2001 (92)
3	YUSUKE	ss3251895	Sep 28, 2001 (100)
4	SC_JCM	ss3631716	Sep 28, 2001 (100)
5	WI_SSAHASNP	ss6716854	Feb 20, 2003 (111)
6	PERLEGEN	ss24664386	Sep 20, 2004 (123)
7	APPLERA_GI	ss48430370	Mar 15, 2006 (126)
8	SI_EXO	ss52070949	Oct 14, 2006 (127)
9	AFFY	ss66017420	Nov 29, 2006 (127)
10	ILLUMINA	ss66670307	Nov 29, 2006 (127)
11	ILLUMINA	ss67040267	Nov 29, 2006 (127)
12	ILLUMINA	ss67364811	Nov 29, 2006 (127)
13	PERLEGEN	ss68922739	May 16, 2007 (127)
14	ILLUMINA	ss70416313	May 16, 2007 (127)
15	ILLUMINA	ss70585316	May 25, 2008 (130)
16	ILLUMINA	ss71128146	May 16, 2007 (127)
17	ILLUMINA	ss75605771	Dec 06, 2007 (129)
18	KRIBB_YJKIM	ss83711628	Dec 15, 2007 (130)
19	1000GENOMES	ss108697818	Jan 23, 2009 (130)
20	1000GENOMES	ss111214022	Jan 25, 2009 (130)
21	ILLUMINA-UK	ss117341589	Feb 14, 2009 (130)
22	ILLUMINA	ss121603611	Dec 01, 2009 (131)
23	ILLUMINA	ss153283116	Dec 01, 2009 (131)
24	GMI	ss154795732	Dec 01, 2009 (131)
25	ILLUMINA	ss159235273	Dec 01, 2009 (131)
26	ILLUMINA	ss160300636	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss162922041	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss165388352	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss167518121	Jul 04, 2010 (132)
30	ILLUMINA	ss170232706	Jul 04, 2010 (132)
31	ILLUMINA	ss172247975	Jul 04, 2010 (132)
32	BUSHMAN	ss199690446	Jul 04, 2010 (132)
33	1000GENOMES	ss221441934	Jul 14, 2010 (132)
34	1000GENOMES	ss232770953	Jul 14, 2010 (132)
35	1000GENOMES	ss239981676	Jul 15, 2010 (132)
36	BL	ss253837373	May 09, 2011 (134)
37	GMI	ss278103751	May 04, 2012 (137)
38	GMI	ss285088071	Apr 25, 2013 (138)
39	ILLUMINA	ss479823268	May 04, 2012 (137)
40	ILLUMINA	ss479830503	May 04, 2012 (137)
41	ILLUMINA	ss480419385	Sep 08, 2015 (146)
42	ILLUMINA	ss484710138	May 04, 2012 (137)
43	1000GENOMES	ss490898820	May 04, 2012 (137)
44	CLINSEQ_SNP	ss491863021	May 04, 2012 (137)
45	ILLUMINA	ss532936663	Sep 08, 2015 (146)
46	ILLUMINA	ss536814611	Sep 08, 2015 (146)
47	TISHKOFF	ss558119057	Apr 25, 2013 (138)
48	SSMP	ss651955033	Apr 25, 2013 (138)
49	NHLBI-ESP	ss712622567	Apr 25, 2013 (138)
50	ILLUMINA	ss778790541	Sep 08, 2015 (146)
51	ILLUMINA	ss782801825	Sep 08, 2015 (146)
52	ILLUMINA	ss783767293	Sep 08, 2015 (146)
53	ILLUMINA	ss825385587	Apr 01, 2015 (144)
54	ILLUMINA	ss832054830	Sep 08, 2015 (146)
55	ILLUMINA	ss832747608	Jul 13, 2019 (153)
56	ILLUMINA	ss834250580	Sep 08, 2015 (146)
57	JMKIDD_LAB	ss974454793	Aug 21, 2014 (142)
58	EVA-GONL	ss981119468	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1067465997	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1072296285	Aug 21, 2014 (142)
61	1000GENOMES	ss1313444524	Aug 21, 2014 (142)
62	DDI	ss1430195126	Apr 01, 2015 (144)
63	EVA_GENOME_DK	ss1580957540	Apr 01, 2015 (144)
64	EVA_FINRISK	ss1584037386	Apr 01, 2015 (144)
65	EVA_DECODE	ss1590639465	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1612037501	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1655031534	Apr 01, 2015 (144)
68	EVA_EXAC	ss1687718638	Apr 01, 2015 (144)
69	EVA_MGP	ss1711078205	Apr 01, 2015 (144)
70	EVA_SVP	ss1712734596	Apr 01, 2015 (144)
71	ILLUMINA	ss1752514433	Sep 08, 2015 (146)
72	HAMMER_LAB	ss1802813851	Sep 08, 2015 (146)
73	WEILL_CORNELL_DGM	ss1924367478	Feb 12, 2016 (147)
74	GENOMED	ss1969979565	Jul 19, 2016 (147)
75	JJLAB	ss2022779000	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2150913692	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2270492320	Dec 20, 2016 (150)
78	ILLUMINA	ss2634228262	Nov 08, 2017 (151)
79	GRF	ss2706423572	Nov 08, 2017 (151)
80	GNOMAD	ss2734861709	Nov 08, 2017 (151)
81	GNOMAD	ss2747340390	Nov 08, 2017 (151)
82	GNOMAD	ss2819866020	Nov 08, 2017 (151)
83	SWEGEN	ss2996224348	Nov 08, 2017 (151)
84	EVA_SAMSUNG_MC	ss3023060981	Nov 08, 2017 (151)
85	BIOINF_KMB_FNS_UNIBA	ss3025171192	Nov 08, 2017 (151)
86	CSHL	ss3346165895	Nov 08, 2017 (151)
87	ILLUMINA	ss3629150408	Oct 12, 2018 (152)
88	ILLUMINA	ss3629150409	Oct 12, 2018 (152)
89	ILLUMINA	ss3632158364	Oct 12, 2018 (152)
90	ILLUMINA	ss3633361192	Oct 12, 2018 (152)
91	ILLUMINA	ss3634081146	Oct 12, 2018 (152)
92	ILLUMINA	ss3634985738	Oct 12, 2018 (152)
93	ILLUMINA	ss3635763479	Oct 12, 2018 (152)
94	ILLUMINA	ss3636694367	Oct 12, 2018 (152)
95	ILLUMINA	ss3637516071	Oct 12, 2018 (152)
96	ILLUMINA	ss3638532016	Oct 12, 2018 (152)
97	ILLUMINA	ss3639268508	Oct 12, 2018 (152)
98	ILLUMINA	ss3639656804	Oct 12, 2018 (152)
99	ILLUMINA	ss3640693031	Oct 12, 2018 (152)
100	ILLUMINA	ss3643479658	Oct 12, 2018 (152)
101	OMUKHERJEE_ADBS	ss3646314990	Oct 12, 2018 (152)
102	EGCUT_WGS	ss3664145464	Jul 13, 2019 (153)
103	EVA_DECODE	ss3713870848	Jul 13, 2019 (153)
104	ACPOP	ss3731977509	Jul 13, 2019 (153)
105	ILLUMINA	ss3745285919	Jul 13, 2019 (153)
106	EVA	ss3762915120	Jul 13, 2019 (153)
107	ILLUMINA	ss3772780320	Jul 13, 2019 (153)
108	PACBIO	ss3784984204	Jul 13, 2019 (153)
109	PACBIO	ss3790404888	Jul 13, 2019 (153)
110	PACBIO	ss3795280775	Jul 13, 2019 (153)
111	KHV_HUMAN_GENOMES	ss3806083996	Jul 13, 2019 (153)
112	EVA	ss3824063363	Apr 26, 2020 (154)
113	EVA	ss3825522236	Apr 26, 2020 (154)
114	EVA	ss3825538450	Apr 26, 2020 (154)
115	EVA	ss3829028741	Apr 26, 2020 (154)
116	EVA	ss3837971905	Apr 26, 2020 (154)
117	EVA	ss3843414315	Apr 26, 2020 (154)
118	HGDP	ss3847777437	Apr 26, 2020 (154)
119	SGDP_PRJ	ss3860928151	Apr 26, 2020 (154)
120	KRGDB	ss3907315895	Apr 26, 2020 (154)
121	KOGIC	ss3955886186	Apr 26, 2020 (154)
122	FSA-LAB	ss3984299169	Apr 26, 2021 (155)
123	FSA-LAB	ss3984299170	Apr 26, 2021 (155)
124	EVA	ss3985117720	Apr 26, 2021 (155)
125	EVA	ss3986298721	Apr 26, 2021 (155)
126	EVA	ss4017187161	Apr 26, 2021 (155)
127	TOPMED	ss4645964836	Apr 26, 2021 (155)
128	TOMMO_GENOMICS	ss5169837768	Apr 26, 2021 (155)
129	EVA	ss5237010675	Apr 26, 2021 (155)
130	1000G_HIGH_COVERAGE	ss5262459061	Oct 13, 2022 (156)
131	EVA	ss5315021397	Oct 13, 2022 (156)
132	EVA	ss5354899799	Oct 13, 2022 (156)
133	HUGCELL_USP	ss5460863965	Oct 13, 2022 (156)
134	EVA	ss5507879676	Oct 13, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5545312498	Oct 13, 2022 (156)
136	EVA	ss5623891529	Oct 13, 2022 (156)
137	EVA	ss5623931212	Oct 13, 2022 (156)
138	EVA	ss5624144451	Oct 13, 2022 (156)
139	SANFORD_IMAGENETICS	ss5636936395	Oct 13, 2022 (156)
140	TOMMO_GENOMICS	ss5705333949	Oct 13, 2022 (156)
141	EVA	ss5799637477	Oct 13, 2022 (156)
142	YY_MCH	ss5805904930	Oct 13, 2022 (156)
143	EVA	ss5845288551	Oct 13, 2022 (156)
144	EVA	ss5848621047	Oct 13, 2022 (156)
145	EVA	ss5854626662	Oct 13, 2022 (156)
146	EVA	ss5867134875	Oct 13, 2022 (156)
147	EVA	ss5935735484	Oct 13, 2022 (156)
148	EVA	ss5965354628	Oct 13, 2022 (156)
149	EVA	ss5980270595	Oct 13, 2022 (156)
150	EVA	ss5981226249	Oct 13, 2022 (156)
151	1000Genomes	NC_000004.11 - 187538330	Oct 12, 2018 (152)
152	1000Genomes_30x	NC_000004.12 - 186617176	Oct 13, 2022 (156)
153	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 187538330	Oct 12, 2018 (152)
154	Genetic variation in the Estonian population	NC_000004.11 - 187538330	Oct 12, 2018 (152)
155	ExAC	NC_000004.11 - 187538330	Oct 12, 2018 (152)
156	FINRISK	NC_000004.11 - 187538330	Apr 26, 2020 (154)
157	The Danish reference pan genome	NC_000004.11 - 187538330	Apr 26, 2020 (154)
158	gnomAD - Genomes	NC_000004.12 - 186617176	Apr 26, 2021 (155)
159	gnomAD - Exomes	NC_000004.11 - 187538330	Jul 13, 2019 (153)
160	GO Exome Sequencing Project	NC_000004.11 - 187538330	Oct 12, 2018 (152)
161	Genome of the Netherlands Release 5	NC_000004.11 - 187538330	Apr 26, 2020 (154)
162	HGDP-CEPH-db Supplement 1	NC_000004.10 - 187775324	Apr 26, 2020 (154)
163	HapMap	NC_000004.12 - 186617176	Apr 26, 2020 (154)
164	KOREAN population from KRGDB	NC_000004.11 - 187538330	Apr 26, 2020 (154)
165	Korean Genome Project	NC_000004.12 - 186617176	Apr 26, 2020 (154)
166	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 187538330	Apr 26, 2020 (154)
167	Northern Sweden	NC_000004.11 - 187538330	Jul 13, 2019 (153)
168	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 187538330	Apr 26, 2021 (155)
169	Qatari	NC_000004.11 - 187538330	Apr 26, 2020 (154)
170	SGDP_PRJ	NC_000004.11 - 187538330	Apr 26, 2020 (154)
171	Siberian	NC_000004.11 - 187538330	Apr 26, 2020 (154)
172	8.3KJPN	NC_000004.11 - 187538330	Apr 26, 2021 (155)
173	14KJPN	NC_000004.12 - 186617176	Oct 13, 2022 (156)
174	TopMed	NC_000004.12 - 186617176	Apr 26, 2021 (155)
175	UK 10K study - Twins	NC_000004.11 - 187538330	Oct 12, 2018 (152)
176	A Vietnamese Genetic Variation Database	NC_000004.11 - 187538330	Jul 13, 2019 (153)
177	ALFA	NC_000004.12 - 186617176	Apr 26, 2021 (155)
178	ClinVar	RCV001637789.6	Oct 13, 2022 (156)

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)
rs17515075	Oct 07, 2004 (123)
rs59922110	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639268508, ss3639656804	NC_000004.9:187913478:G:A	NC_000004.12:186617175:G:A	(self)
455329, ss108697818, ss111214022, ss117341589, ss162922041, ss165388352, ss167518121, ss199690446, ss253837373, ss278103751, ss285088071, ss479823268, ss491863021, ss825385587, ss1590639465, ss1712734596, ss3643479658, ss3847777437	NC_000004.10:187775323:G:A	NC_000004.12:186617175:G:A	(self)
24983045, 13904992, 9883712, 7702423, 33847, 7122479, 3975931, 521528, 6165998, 14493289, 193965, 5262374, 343647, 6409408, 12945131, 3430046, 27807075, 13904992, 3080977, ss221441934, ss232770953, ss239981676, ss479830503, ss480419385, ss484710138, ss490898820, ss532936663, ss536814611, ss558119057, ss651955033, ss712622567, ss778790541, ss782801825, ss783767293, ss832054830, ss832747608, ss834250580, ss974454793, ss981119468, ss1067465997, ss1072296285, ss1313444524, ss1430195126, ss1580957540, ss1584037386, ss1612037501, ss1655031534, ss1687718638, ss1711078205, ss1752514433, ss1802813851, ss1924367478, ss1969979565, ss2022779000, ss2150913692, ss2634228262, ss2706423572, ss2734861709, ss2747340390, ss2819866020, ss2996224348, ss3023060981, ss3346165895, ss3629150408, ss3629150409, ss3632158364, ss3633361192, ss3634081146, ss3634985738, ss3635763479, ss3636694367, ss3637516071, ss3638532016, ss3640693031, ss3646314990, ss3664145464, ss3731977509, ss3745285919, ss3762915120, ss3772780320, ss3784984204, ss3790404888, ss3795280775, ss3824063363, ss3825522236, ss3825538450, ss3829028741, ss3837971905, ss3860928151, ss3907315895, ss3984299169, ss3984299170, ss3985117720, ss3986298721, ss4017187161, ss5169837768, ss5315021397, ss5354899799, ss5507879676, ss5623891529, ss5623931212, ss5624144451, ss5636936395, ss5799637477, ss5845288551, ss5848621047, ss5935735484, ss5965354628, ss5980270595, ss5981226249	NC_000004.11:187538329:G:A	NC_000004.12:186617175:G:A	(self)
RCV001637789.6, 32838433, 176726085, 2784024, 12264187, 39171053, 483342392, 527198473, ss2270492320, ss3025171192, ss3713870848, ss3806083996, ss3843414315, ss3955886186, ss4645964836, ss5237010675, ss5262459061, ss5460863965, ss5545312498, ss5705333949, ss5805904930, ss5854626662, ss5867134875	NC_000004.12:186617175:G:A	NC_000004.12:186617175:G:A	(self)
ss2004917, ss2750265, ss3251895, ss3631716, ss6716854, ss24664386, ss48430370, ss66017420, ss66670307, ss67040267, ss67364811, ss68922739, ss70416313, ss70585316, ss71128146, ss75605771, ss83711628, ss121603611, ss153283116, ss154795732, ss159235273, ss160300636, ss170232706, ss172247975	NT_016354.19:112086050:G:A	NC_000004.12:186617175:G:A	(self)
ss52070949	NT_022792.17:19950269:G:A	NC_000004.12:186617175:G:A	(self)
14493289, ss3907315895	NC_000004.11:187538329:G:T	NC_000004.12:186617175:G:T	(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 rs1280099

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1280099