Name: rs808860
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.

rs808860

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:53731256 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.448574 (118733/264690, TOPMED)
C=0.376538 (96982/257562, ALFA)
C=0.427887 (59923/140044, GnomAD) (+ 21 more)
T=0.48712 (38337/78702, PAGE_STUDY)
T=0.45523 (12864/28258, 14KJPN)
T=0.45686 (7657/16760, 8.3KJPN)
C=0.4819 (3086/6404, 1000G_30x)
C=0.4766 (2387/5008, 1000G)
C=0.3114 (1395/4480, Estonian)
C=0.3428 (1321/3854, ALSPAC)
C=0.3433 (1273/3708, TWINSUK)
T=0.4048 (1186/2930, KOREAN)
T=0.4772 (901/1888, HapMap)
T=0.4269 (782/1832, Korea1K)
C=0.300 (299/998, GoNL)
T=0.425 (328/772, PRJEB37584)
C=0.338 (203/600, NorthernSweden)
C=0.335 (142/424, SGDP_PRJ)
C=0.435 (94/216, Qatari)
C=0.500 (107/214, Vietnamese)
T=0.500 (107/214, Vietnamese)
C=0.23 (12/52, Siberian)
C=0.43 (20/46, Ancient Sardinia)
C=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GLIS1 : 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	262692	C=0.377286	T=0.622714
European	Sub	229680	C=0.360671	T=0.639329
African	Sub	8640	C=0.5810	T=0.4190
African Others	Sub	328	C=0.625	T=0.375
African American	Sub	8312	C=0.5793	T=0.4207
Asian	Sub	3906	C=0.5917	T=0.4083
East Asian	Sub	3142	C=0.5958	T=0.4042
Other Asian	Sub	764	C=0.575	T=0.425
Latin American 1	Sub	1170	C=0.4393	T=0.5607
Latin American 2	Sub	8712	C=0.4427	T=0.5573
South Asian	Sub	378	C=0.362	T=0.638
Other	Sub	10206	C=0.43425	T=0.56575

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	C=0.448574	T=0.551426
Allele Frequency Aggregator	Total	Global	257562	C=0.376538	T=0.623462
Allele Frequency Aggregator	European	Sub	226510	C=0.360743	T=0.639257
Allele Frequency Aggregator	Other	Sub	9388	C=0.4364	T=0.5636
Allele Frequency Aggregator	Latin American 2	Sub	8712	C=0.4427	T=0.5573
Allele Frequency Aggregator	African	Sub	7498	C=0.5807	T=0.4193
Allele Frequency Aggregator	Asian	Sub	3906	C=0.5917	T=0.4083
Allele Frequency Aggregator	Latin American 1	Sub	1170	C=0.4393	T=0.5607
Allele Frequency Aggregator	South Asian	Sub	378	C=0.362	T=0.638
gnomAD - Genomes	Global	Study-wide	140044	C=0.427887	T=0.572113
gnomAD - Genomes	European	Sub	75852	C=0.34279	T=0.65721
gnomAD - Genomes	African	Sub	41954	C=0.57277	T=0.42723
gnomAD - Genomes	American	Sub	13644	C=0.41373	T=0.58627
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.4587	T=0.5413
gnomAD - Genomes	East Asian	Sub	3126	C=0.5771	T=0.4229
gnomAD - Genomes	Other	Sub	2150	C=0.4284	T=0.5716
The PAGE Study	Global	Study-wide	78702	C=0.51288	T=0.48712
The PAGE Study	AfricanAmerican	Sub	32516	C=0.56520	T=0.43480
The PAGE Study	Mexican	Sub	10810	C=0.45874	T=0.54126
The PAGE Study	Asian	Sub	8318	C=0.5595	T=0.4405
The PAGE Study	PuertoRican	Sub	7918	C=0.4350	T=0.5650
The PAGE Study	NativeHawaiian	Sub	4534	C=0.5865	T=0.4135
The PAGE Study	Cuban	Sub	4230	C=0.4184	T=0.5816
The PAGE Study	Dominican	Sub	3828	C=0.5133	T=0.4867
The PAGE Study	CentralAmerican	Sub	2450	C=0.4114	T=0.5886
The PAGE Study	SouthAmerican	Sub	1982	C=0.3764	T=0.6236
The PAGE Study	NativeAmerican	Sub	1260	C=0.3992	T=0.6008
The PAGE Study	SouthAsian	Sub	856	C=0.326	T=0.674
14KJPN	JAPANESE	Study-wide	28258	C=0.54477	T=0.45523
8.3KJPN	JAPANESE	Study-wide	16760	C=0.54314	T=0.45686
1000Genomes_30x	Global	Study-wide	6404	C=0.4819	T=0.5181
1000Genomes_30x	African	Sub	1786	C=0.6523	T=0.3477
1000Genomes_30x	Europe	Sub	1266	C=0.3404	T=0.6596
1000Genomes_30x	South Asian	Sub	1202	C=0.3253	T=0.6747
1000Genomes_30x	East Asian	Sub	1170	C=0.5803	T=0.4197
1000Genomes_30x	American	Sub	980	C=0.429	T=0.571
1000Genomes	Global	Study-wide	5008	C=0.4766	T=0.5234
1000Genomes	African	Sub	1322	C=0.6430	T=0.3570
1000Genomes	East Asian	Sub	1008	C=0.5685	T=0.4315
1000Genomes	Europe	Sub	1006	C=0.3290	T=0.6710
1000Genomes	South Asian	Sub	978	C=0.335	T=0.665
1000Genomes	American	Sub	694	C=0.439	T=0.561
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3114	T=0.6886
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3428	T=0.6572
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3433	T=0.6567
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5952	G=0.0000, T=0.4048
HapMap	Global	Study-wide	1888	C=0.5228	T=0.4772
HapMap	American	Sub	770	C=0.456	T=0.544
HapMap	African	Sub	688	C=0.642	T=0.358
HapMap	Asian	Sub	254	C=0.555	T=0.445
HapMap	Europe	Sub	176	C=0.301	T=0.699
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5731	T=0.4269
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.300	T=0.700
CNV burdens in cranial meningiomas	Global	Study-wide	772	C=0.575	T=0.425
CNV burdens in cranial meningiomas	CRM	Sub	772	C=0.575	T=0.425
Northern Sweden	ACPOP	Study-wide	600	C=0.338	T=0.662
SGDP_PRJ	Global	Study-wide	424	C=0.335	T=0.665
Qatari	Global	Study-wide	216	C=0.435	T=0.565
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.500	T=0.500
Siberian	Global	Study-wide	52	C=0.23	T=0.77
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	C=0.43	T=0.57
The Danish reference pan genome	Danish	Study-wide	40	C=0.30	T=0.70

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 1	NC_000001.11:g.53731256C>G
GRCh38.p14 chr 1	NC_000001.11:g.53731256C>T
GRCh37.p13 chr 1	NC_000001.10:g.54196929C>G
GRCh37.p13 chr 1	NC_000001.10:g.54196929C>T

Gene: GLIS1, GLIS family zinc finger 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GLIS1 transcript variant 2	NM_001367484.1:c.259+6550… NM_001367484.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant 3	NM_001390836.1:c.259+6550… NM_001390836.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant 4	NM_001390837.1:c.259+6550… NM_001390837.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant 5	NM_001390838.1:c.259+6550… NM_001390838.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant 1	NM_147193.4:c.-267+2648G>C	N/A	Intron Variant
GLIS1 transcript variant X2	XM_017000409.2:c.259+6550… XM_017000409.2:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant X5	XM_017000411.2:c.259+6550… XM_017000411.2:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant X6	XM_017000412.2:c.259+6550… XM_017000412.2:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant X1	XM_047447071.1:c.259+6550… XM_047447071.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant X3	XM_047447085.1:c.259+6550… XM_047447085.1:c.259+6550G>C	N/A	Intron Variant
GLIS1 transcript variant X4	XM_047447086.1:c.259+6550… XM_047447086.1:c.259+6550G>C	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	C=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.53731256=	NC_000001.11:g.53731256C>G	NC_000001.11:g.53731256C>T
GRCh37.p13 chr 1	NC_000001.10:g.54196929=	NC_000001.10:g.54196929C>G	NC_000001.10:g.54196929C>T
GLIS1 transcript variant 2	NM_001367484.1:c.259+6550=	NM_001367484.1:c.259+6550G>C	NM_001367484.1:c.259+6550G>A
GLIS1 transcript variant 3	NM_001390836.1:c.259+6550=	NM_001390836.1:c.259+6550G>C	NM_001390836.1:c.259+6550G>A
GLIS1 transcript variant 4	NM_001390837.1:c.259+6550=	NM_001390837.1:c.259+6550G>C	NM_001390837.1:c.259+6550G>A
GLIS1 transcript variant 5	NM_001390838.1:c.259+6550=	NM_001390838.1:c.259+6550G>C	NM_001390838.1:c.259+6550G>A
GLIS1 transcript variant 1	NM_147193.2:c.-267+2648=	NM_147193.2:c.-267+2648G>C	NM_147193.2:c.-267+2648G>A
GLIS1 transcript variant 1	NM_147193.4:c.-267+2648=	NM_147193.4:c.-267+2648G>C	NM_147193.4:c.-267+2648G>A
GLIS1 transcript variant X1	XM_005270505.1:c.259+6550=	XM_005270505.1:c.259+6550G>C	XM_005270505.1:c.259+6550G>A
GLIS1 transcript variant X2	XM_017000409.2:c.259+6550=	XM_017000409.2:c.259+6550G>C	XM_017000409.2:c.259+6550G>A
GLIS1 transcript variant X5	XM_017000411.2:c.259+6550=	XM_017000411.2:c.259+6550G>C	XM_017000411.2:c.259+6550G>A
GLIS1 transcript variant X6	XM_017000412.2:c.259+6550=	XM_017000412.2:c.259+6550G>C	XM_017000412.2:c.259+6550G>A
GLIS1 transcript variant X1	XM_047447071.1:c.259+6550=	XM_047447071.1:c.259+6550G>C	XM_047447071.1:c.259+6550G>A
GLIS1 transcript variant X3	XM_047447085.1:c.259+6550=	XM_047447085.1:c.259+6550G>C	XM_047447085.1:c.259+6550G>A
GLIS1 transcript variant X4	XM_047447086.1:c.259+6550=	XM_047447086.1:c.259+6550G>C	XM_047447086.1:c.259+6550G>A

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#.

123 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1047771	Oct 05, 2000 (86)
2	KWOK	ss1642938	Oct 18, 2000 (87)
3	SC_JCM	ss2581398	Nov 08, 2000 (89)
4	BCM_SSAHASNP	ss9899262	Jul 11, 2003 (116)
5	WI_SSAHASNP	ss11425249	Jul 11, 2003 (116)
6	CSHL-HAPMAP	ss19845785	Feb 27, 2004 (120)
7	SSAHASNP	ss20515715	Apr 05, 2004 (121)
8	ABI	ss43931142	Mar 13, 2006 (126)
9	AFFY	ss66328220	Dec 01, 2006 (127)
10	PERLEGEN	ss68766011	May 18, 2007 (127)
11	AFFY	ss76022859	Dec 06, 2007 (129)
12	KRIBB_YJKIM	ss81439056	Dec 15, 2007 (130)
13	HUMANGENOME_JCVI	ss97936810	Feb 04, 2009 (130)
14	1000GENOMES	ss108196591	Jan 23, 2009 (130)
15	1000GENOMES	ss110443633	Jan 24, 2009 (130)
16	ENSEMBL	ss137935109	Dec 01, 2009 (131)
17	ENSEMBL	ss138943899	Dec 01, 2009 (131)
18	GMI	ss154991782	Dec 01, 2009 (131)
19	ILLUMINA	ss160948674	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss163384908	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss164276680	Jul 04, 2010 (132)
22	AFFY	ss170535949	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss205204861	Jul 04, 2010 (132)
24	1000GENOMES	ss218379905	Jul 14, 2010 (132)
25	1000GENOMES	ss230530689	Jul 14, 2010 (132)
26	1000GENOMES	ss238225766	Jul 15, 2010 (132)
27	BL	ss253091730	May 09, 2011 (134)
28	GMI	ss275822925	May 04, 2012 (137)
29	PJP	ss290509493	May 09, 2011 (134)
30	ILLUMINA	ss481780664	May 04, 2012 (137)
31	ILLUMINA	ss481812849	May 04, 2012 (137)
32	ILLUMINA	ss482774581	Sep 08, 2015 (146)
33	ILLUMINA	ss485685040	May 04, 2012 (137)
34	ILLUMINA	ss537554406	Sep 08, 2015 (146)
35	TISHKOFF	ss554102556	Apr 25, 2013 (138)
36	SSMP	ss647927822	Apr 25, 2013 (138)
37	ILLUMINA	ss778713969	Sep 08, 2015 (146)
38	ILLUMINA	ss783288094	Sep 08, 2015 (146)
39	ILLUMINA	ss784240838	Sep 08, 2015 (146)
40	ILLUMINA	ss832549303	Sep 08, 2015 (146)
41	ILLUMINA	ss834173180	Sep 08, 2015 (146)
42	EVA-GONL	ss975150697	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1067878805	Aug 21, 2014 (142)
44	1000GENOMES	ss1290856706	Aug 21, 2014 (142)
45	DDI	ss1425805306	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1574052557	Apr 01, 2015 (144)
47	EVA_DECODE	ss1584516689	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1600154307	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1643148340	Apr 01, 2015 (144)
50	EVA_SVP	ss1712332071	Apr 01, 2015 (144)
51	ILLUMINA	ss1751924517	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1794344734	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1918359558	Feb 12, 2016 (147)
54	ILLUMINA	ss1945995059	Feb 12, 2016 (147)
55	ILLUMINA	ss1958272148	Feb 12, 2016 (147)
56	GENOMED	ss1966743070	Jul 19, 2016 (147)
57	JJLAB	ss2019694757	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2147708781	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2162431222	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2624360148	Nov 08, 2017 (151)
61	ILLUMINA	ss2632513904	Nov 08, 2017 (151)
62	GRF	ss2697620613	Nov 08, 2017 (151)
63	ILLUMINA	ss2710671877	Nov 08, 2017 (151)
64	GNOMAD	ss2755052894	Nov 08, 2017 (151)
65	AFFY	ss2984859386	Nov 08, 2017 (151)
66	AFFY	ss2985508368	Nov 08, 2017 (151)
67	SWEGEN	ss2986802526	Nov 08, 2017 (151)
68	ILLUMINA	ss3021086948	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3023607590	Nov 08, 2017 (151)
70	CSHL	ss3343449322	Nov 08, 2017 (151)
71	ILLUMINA	ss3625535703	Oct 11, 2018 (152)
72	ILLUMINA	ss3626095225	Oct 11, 2018 (152)
73	ILLUMINA	ss3630550206	Oct 11, 2018 (152)
74	ILLUMINA	ss3632891008	Oct 11, 2018 (152)
75	ILLUMINA	ss3633585584	Oct 11, 2018 (152)
76	ILLUMINA	ss3634323912	Oct 11, 2018 (152)
77	ILLUMINA	ss3635279475	Oct 11, 2018 (152)
78	ILLUMINA	ss3635999420	Oct 11, 2018 (152)
79	ILLUMINA	ss3637029891	Oct 11, 2018 (152)
80	ILLUMINA	ss3640031273	Oct 11, 2018 (152)
81	ILLUMINA	ss3644490967	Oct 11, 2018 (152)
82	URBANLAB	ss3646660733	Oct 11, 2018 (152)
83	ILLUMINA	ss3651413285	Oct 11, 2018 (152)
84	ILLUMINA	ss3653631888	Oct 11, 2018 (152)
85	EGCUT_WGS	ss3654866010	Jul 12, 2019 (153)
86	EVA_DECODE	ss3686753193	Jul 12, 2019 (153)
87	ILLUMINA	ss3725023900	Jul 12, 2019 (153)
88	ACPOP	ss3727038748	Jul 12, 2019 (153)
89	ILLUMINA	ss3744046113	Jul 12, 2019 (153)
90	ILLUMINA	ss3744624835	Jul 12, 2019 (153)
91	EVA	ss3746192035	Jul 12, 2019 (153)
92	PAGE_CC	ss3770808185	Jul 12, 2019 (153)
93	ILLUMINA	ss3772126269	Jul 12, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3799201468	Jul 12, 2019 (153)
95	EVA	ss3826166481	Apr 25, 2020 (154)
96	EVA	ss3836470014	Apr 25, 2020 (154)
97	EVA	ss3841876037	Apr 25, 2020 (154)
98	SGDP_PRJ	ss3848827349	Apr 25, 2020 (154)
99	KRGDB	ss3893835188	Apr 25, 2020 (154)
100	KOGIC	ss3944492575	Apr 25, 2020 (154)
101	EVA	ss3984456796	Apr 25, 2021 (155)
102	EVA	ss3984795392	Apr 25, 2021 (155)
103	EVA	ss4016909737	Apr 25, 2021 (155)
104	TOPMED	ss4449442008	Apr 25, 2021 (155)
105	TOMMO_GENOMICS	ss5143909898	Apr 25, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5242237911	Oct 12, 2022 (156)
107	EVA	ss5314614417	Oct 12, 2022 (156)
108	EVA	ss5318666826	Oct 12, 2022 (156)
109	HUGCELL_USP	ss5443302385	Oct 12, 2022 (156)
110	EVA	ss5505847551	Oct 12, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5514499594	Oct 12, 2022 (156)
112	SANFORD_IMAGENETICS	ss5624204629	Oct 12, 2022 (156)
113	SANFORD_IMAGENETICS	ss5625510802	Oct 12, 2022 (156)
114	TOMMO_GENOMICS	ss5668671040	Oct 12, 2022 (156)
115	EVA	ss5799483546	Oct 12, 2022 (156)
116	YY_MCH	ss5800587482	Oct 12, 2022 (156)
117	EVA	ss5831946508	Oct 12, 2022 (156)
118	EVA	ss5847158117	Oct 12, 2022 (156)
119	EVA	ss5847538438	Oct 12, 2022 (156)
120	EVA	ss5848901171	Oct 12, 2022 (156)
121	EVA	ss5908223052	Oct 12, 2022 (156)
122	EVA	ss5937341798	Oct 12, 2022 (156)
123	EVA	ss5979273573	Oct 12, 2022 (156)
124	1000Genomes	NC_000001.10 - 54196929	Oct 11, 2018 (152)
125	1000Genomes_30x	NC_000001.11 - 53731256	Oct 12, 2022 (156)
126	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 54196929	Oct 11, 2018 (152)
127	Genetic variation in the Estonian population	NC_000001.10 - 54196929	Oct 11, 2018 (152)
128	The Danish reference pan genome	NC_000001.10 - 54196929	Apr 25, 2020 (154)
129	gnomAD - Genomes	NC_000001.11 - 53731256	Apr 25, 2021 (155)
130	Genome of the Netherlands Release 5	NC_000001.10 - 54196929	Apr 25, 2020 (154)
131	HapMap	NC_000001.11 - 53731256	Apr 25, 2020 (154)
132	KOREAN population from KRGDB	NC_000001.10 - 54196929	Apr 25, 2020 (154)
133	Korean Genome Project	NC_000001.11 - 53731256	Apr 25, 2020 (154)
134	Northern Sweden	NC_000001.10 - 54196929	Jul 12, 2019 (153)
135	The PAGE Study	NC_000001.11 - 53731256	Jul 12, 2019 (153)
136	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 54196929	Apr 25, 2021 (155)
137	CNV burdens in cranial meningiomas	NC_000001.10 - 54196929	Apr 25, 2021 (155)
138	Qatari	NC_000001.10 - 54196929	Apr 25, 2020 (154)
139	SGDP_PRJ	NC_000001.10 - 54196929	Apr 25, 2020 (154)
140	Siberian	NC_000001.10 - 54196929	Apr 25, 2020 (154)
141	8.3KJPN	NC_000001.10 - 54196929	Apr 25, 2021 (155)
142	14KJPN	NC_000001.11 - 53731256	Oct 12, 2022 (156)
143	TopMed	NC_000001.11 - 53731256	Apr 25, 2021 (155)
144	UK 10K study - Twins	NC_000001.10 - 54196929	Oct 11, 2018 (152)
145	A Vietnamese Genetic Variation Database	NC_000001.10 - 54196929	Jul 12, 2019 (153)
146	ALFA	NC_000001.11 - 53731256	Apr 25, 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).

Associated ID	History Updated (Build)
rs59355070	Feb 26, 2009 (130)
rs386615375	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1012582, ss3893835188	NC_000001.10:54196928:C:G	NC_000001.11:53731255:C:G	(self)
ss108196591, ss110443633, ss163384908, ss164276680, ss205204861, ss253091730, ss275822925, ss290509493, ss481780664, ss1584516689, ss1712332071	NC_000001.9:53969516:C:T	NC_000001.11:53731255:C:T	(self)
1573770, 855318, 604258, 1497725, 362462, 1012582, 323613, 21319, 6102, 401488, 844329, 225135, 1879205, 855318, 175171, ss218379905, ss230530689, ss238225766, ss481812849, ss482774581, ss485685040, ss537554406, ss554102556, ss647927822, ss778713969, ss783288094, ss784240838, ss832549303, ss834173180, ss975150697, ss1067878805, ss1290856706, ss1425805306, ss1574052557, ss1600154307, ss1643148340, ss1751924517, ss1794344734, ss1918359558, ss1945995059, ss1958272148, ss1966743070, ss2019694757, ss2147708781, ss2624360148, ss2632513904, ss2697620613, ss2710671877, ss2755052894, ss2984859386, ss2985508368, ss2986802526, ss3021086948, ss3343449322, ss3625535703, ss3626095225, ss3630550206, ss3632891008, ss3633585584, ss3634323912, ss3635279475, ss3635999420, ss3637029891, ss3640031273, ss3644490967, ss3651413285, ss3653631888, ss3654866010, ss3727038748, ss3744046113, ss3744624835, ss3746192035, ss3772126269, ss3826166481, ss3836470014, ss3848827349, ss3893835188, ss3984456796, ss3984795392, ss4016909737, ss5143909898, ss5314614417, ss5318666826, ss5505847551, ss5624204629, ss5625510802, ss5799483546, ss5831946508, ss5847158117, ss5847538438, ss5937341798, ss5979273573	NC_000001.10:54196928:C:T	NC_000001.11:53731255:C:T	(self)
2025529, 11149245, 66427, 870576, 29654, 2508144, 13048343, 10056766305, ss2162431222, ss3023607590, ss3646660733, ss3686753193, ss3725023900, ss3770808185, ss3799201468, ss3841876037, ss3944492575, ss4449442008, ss5242237911, ss5443302385, ss5514499594, ss5668671040, ss5800587482, ss5848901171, ss5908223052	NC_000001.11:53731255:C:T	NC_000001.11:53731255:C:T	(self)
ss9899262, ss11425249	NT_032977.5:6645840:C:T	NC_000001.11:53731255:C:T	(self)
ss19845785, ss20515715	NT_032977.6:15759999:C:T	NC_000001.11:53731255:C:T	(self)
ss1047771, ss1642938, ss2581398, ss43931142, ss66328220, ss68766011, ss76022859, ss81439056, ss97936810, ss137935109, ss138943899, ss154991782, ss160948674, ss170535949	NT_032977.9:24168846:C:T	NC_000001.11:53731255:C: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 rs808860

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs808860