Name: rs17005500
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.

rs17005500

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:79345104 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.056583 (17049/301312, ALFA)
C=0.125486 (33215/264690, TOPMED)
C=0.054399 (11156/205076, GENOGRAPHIC) (+ 23 more)
C=0.119389 (16714/139996, GnomAD)
C=0.17448 (13729/78686, PAGE_STUDY)
C=0.11809 (3337/28258, 14KJPN)
C=0.11754 (1970/16760, 8.3KJPN)
C=0.1404 (899/6404, 1000G_30x)
C=0.1366 (684/5008, 1000G)
C=0.0422 (189/4480, Estonian)
C=0.0361 (139/3854, ALSPAC)
C=0.0423 (157/3708, TWINSUK)
C=0.1113 (326/2930, KOREAN)
C=0.1298 (270/2080, HGDP_Stanford)
C=0.1750 (330/1886, HapMap)
C=0.1146 (210/1832, Korea1K)
C=0.034 (34/998, GoNL)
C=0.138 (109/792, PRJEB37584)
C=0.023 (14/600, NorthernSweden)
C=0.176 (38/216, Qatari)
C=0.131 (28/214, Vietnamese)
T=0.434 (59/136, SGDP_PRJ)
C=0.12 (10/84, Ancient Sardinia)
C=0.03 (1/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SYT1 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	306348	T=0.942624	C=0.057376	0.890647	0.005399	0.103954	32
European	Sub	269528	T=0.952992	C=0.047008	0.908269	0.002285	0.089445	0
African	Sub	9526	T=0.7231	C=0.2769	0.524879	0.078732	0.396389	0
African Others	Sub	372	T=0.659	C=0.341	0.424731	0.107527	0.467742	0
African American	Sub	9154	T=0.7257	C=0.2743	0.528949	0.077562	0.393489	0
Asian	Sub	3938	T=0.8687	C=0.1313	0.755714	0.018283	0.226003	0
East Asian	Sub	3192	T=0.8734	C=0.1266	0.763158	0.016291	0.220551	0
Other Asian	Sub	746	T=0.849	C=0.151	0.723861	0.02681	0.24933	0
Latin American 1	Sub	1134	T=0.8862	C=0.1138	0.791887	0.0194	0.188713	2
Latin American 2	Sub	7224	T=0.9402	C=0.0598	0.885382	0.004983	0.109635	2
South Asian	Sub	5222	T=0.9462	C=0.0538	0.89774	0.005362	0.096898	4
Other	Sub	9776	T=0.9069	C=0.0931	0.827128	0.013298	0.159574	8

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
Allele Frequency Aggregator	Total	Global	301312	T=0.943417	C=0.056583
Allele Frequency Aggregator	European	Sub	266434	T=0.952964	C=0.047036
Allele Frequency Aggregator	Other	Sub	8976	T=0.9079	C=0.0921
Allele Frequency Aggregator	African	Sub	8384	T=0.7220	C=0.2780
Allele Frequency Aggregator	Latin American 2	Sub	7224	T=0.9402	C=0.0598
Allele Frequency Aggregator	South Asian	Sub	5222	T=0.9462	C=0.0538
Allele Frequency Aggregator	Asian	Sub	3938	T=0.8687	C=0.1313
Allele Frequency Aggregator	Latin American 1	Sub	1134	T=0.8862	C=0.1138
TopMed	Global	Study-wide	264690	T=0.874514	C=0.125486
Genographic Project	Global	Study-wide	205076	T=0.945601	C=0.054399
gnomAD - Genomes	Global	Study-wide	139996	T=0.880611	C=0.119389
gnomAD - Genomes	European	Sub	75906	T=0.95613	C=0.04387
gnomAD - Genomes	African	Sub	41852	T=0.72333	C=0.27667
gnomAD - Genomes	American	Sub	13636	T=0.92578	C=0.07422
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9304	C=0.0696
gnomAD - Genomes	East Asian	Sub	3130	T=0.9038	C=0.0962
gnomAD - Genomes	Other	Sub	2152	T=0.8787	C=0.1213
The PAGE Study	Global	Study-wide	78686	T=0.82552	C=0.17448
The PAGE Study	AfricanAmerican	Sub	32516	T=0.73010	C=0.26990
The PAGE Study	Mexican	Sub	10798	T=0.93101	C=0.06899
The PAGE Study	Asian	Sub	8318	T=0.8860	C=0.1140
The PAGE Study	PuertoRican	Sub	7918	T=0.9040	C=0.0960
The PAGE Study	NativeHawaiian	Sub	4534	T=0.8130	C=0.1870
The PAGE Study	Cuban	Sub	4230	T=0.8991	C=0.1009
The PAGE Study	Dominican	Sub	3828	T=0.8247	C=0.1753
The PAGE Study	CentralAmerican	Sub	2448	T=0.8877	C=0.1123
The PAGE Study	SouthAmerican	Sub	1982	T=0.9268	C=0.0732
The PAGE Study	NativeAmerican	Sub	1260	T=0.9246	C=0.0754
The PAGE Study	SouthAsian	Sub	854	T=0.954	C=0.046
14KJPN	JAPANESE	Study-wide	28258	T=0.88191	C=0.11809
8.3KJPN	JAPANESE	Study-wide	16760	T=0.88246	C=0.11754
1000Genomes_30x	Global	Study-wide	6404	T=0.8596	C=0.1404
1000Genomes_30x	African	Sub	1786	T=0.6629	C=0.3371
1000Genomes_30x	Europe	Sub	1266	T=0.9621	C=0.0379
1000Genomes_30x	South Asian	Sub	1202	T=0.9459	C=0.0541
1000Genomes_30x	East Asian	Sub	1170	T=0.8880	C=0.1120
1000Genomes_30x	American	Sub	980	T=0.946	C=0.054
1000Genomes	Global	Study-wide	5008	T=0.8634	C=0.1366
1000Genomes	African	Sub	1322	T=0.6664	C=0.3336
1000Genomes	East Asian	Sub	1008	T=0.8899	C=0.1101
1000Genomes	Europe	Sub	1006	T=0.9612	C=0.0388
1000Genomes	South Asian	Sub	978	T=0.946	C=0.054
1000Genomes	American	Sub	694	T=0.942	C=0.058
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9578	C=0.0422
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9639	C=0.0361
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9577	C=0.0423
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8887	C=0.1113
HGDP-CEPH-db Supplement 1	Global	Study-wide	2080	T=0.8702	C=0.1298
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.874	C=0.126
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.937	C=0.063
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.869	C=0.131
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.956	C=0.044
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.558	C=0.442
HGDP-CEPH-db Supplement 1	America	Sub	212	T=0.948	C=0.052
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.90	C=0.10
HapMap	Global	Study-wide	1886	T=0.8250	C=0.1750
HapMap	American	Sub	768	T=0.906	C=0.094
HapMap	African	Sub	690	T=0.681	C=0.319
HapMap	Asian	Sub	252	T=0.897	C=0.103
HapMap	Europe	Sub	176	T=0.932	C=0.068
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8854	C=0.1146
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.966	C=0.034
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.862	C=0.138
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.862	C=0.138
Northern Sweden	ACPOP	Study-wide	600	T=0.977	C=0.023
Qatari	Global	Study-wide	216	T=0.824	C=0.176
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.869	C=0.131
SGDP_PRJ	Global	Study-wide	136	T=0.434	C=0.566
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	T=0.88	C=0.12
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	4	T=0.5	C=0.5

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 12	NC_000012.12:g.79345104T>C
GRCh37.p13 chr 12	NC_000012.11:g.79738884T>C

Gene: SYT1, synaptotagmin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SYT1 transcript variant 2	NM_001135805.2:c.811-8398… NM_001135805.2:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant 3	NM_001135806.2:c.811-8398… NM_001135806.2:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant 4	NM_001291901.2:c.802-8398… NM_001291901.2:c.802-8398T>C	N/A	Intron Variant
SYT1 transcript variant 1	NM_005639.3:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X7	XM_005269113.4:c.802-8398… XM_005269113.4:c.802-8398T>C	N/A	Intron Variant
SYT1 transcript variant X9	XM_006719576.2:c.802-8398… XM_006719576.2:c.802-8398T>C	N/A	Intron Variant
SYT1 transcript variant X2	XM_011538710.3:c.811-8398… XM_011538710.3:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X1	XM_047429479.1:c.811-8398… XM_047429479.1:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X2	XM_047429480.1:c.811-8398… XM_047429480.1:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X3	XM_047429481.1:c.811-8398… XM_047429481.1:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X4	XM_047429482.1:c.811-8398… XM_047429482.1:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X5	XM_047429483.1:c.811-8398… XM_047429483.1:c.811-8398T>C	N/A	Intron Variant
SYT1 transcript variant X6	XM_047429484.1:c.802-8398… XM_047429484.1:c.802-8398T>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	T=	C
GRCh38.p14 chr 12	NC_000012.12:g.79345104=	NC_000012.12:g.79345104T>C
GRCh37.p13 chr 12	NC_000012.11:g.79738884=	NC_000012.11:g.79738884T>C
SYT1 transcript variant 2	NM_001135805.1:c.811-8398=	NM_001135805.1:c.811-8398T>C
SYT1 transcript variant 2	NM_001135805.2:c.811-8398=	NM_001135805.2:c.811-8398T>C
SYT1 transcript variant 3	NM_001135806.1:c.811-8398=	NM_001135806.1:c.811-8398T>C
SYT1 transcript variant 3	NM_001135806.2:c.811-8398=	NM_001135806.2:c.811-8398T>C
SYT1 transcript variant 4	NM_001291901.2:c.802-8398=	NM_001291901.2:c.802-8398T>C
SYT1 transcript variant 1	NM_005639.2:c.811-8398=	NM_005639.2:c.811-8398T>C
SYT1 transcript variant 1	NM_005639.3:c.811-8398=	NM_005639.3:c.811-8398T>C
SYT1 transcript variant X1	XM_005269113.1:c.802-8398=	XM_005269113.1:c.802-8398T>C
SYT1 transcript variant X7	XM_005269113.4:c.802-8398=	XM_005269113.4:c.802-8398T>C
SYT1 transcript variant X9	XM_006719576.2:c.802-8398=	XM_006719576.2:c.802-8398T>C
SYT1 transcript variant X2	XM_011538710.3:c.811-8398=	XM_011538710.3:c.811-8398T>C
SYT1 transcript variant X1	XM_047429479.1:c.811-8398=	XM_047429479.1:c.811-8398T>C
SYT1 transcript variant X2	XM_047429480.1:c.811-8398=	XM_047429480.1:c.811-8398T>C
SYT1 transcript variant X3	XM_047429481.1:c.811-8398=	XM_047429481.1:c.811-8398T>C
SYT1 transcript variant X4	XM_047429482.1:c.811-8398=	XM_047429482.1:c.811-8398T>C
SYT1 transcript variant X5	XM_047429483.1:c.811-8398=	XM_047429483.1:c.811-8398T>C
SYT1 transcript variant X6	XM_047429484.1:c.802-8398=	XM_047429484.1:c.802-8398T>C

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#.

118 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23403729	Sep 20, 2004 (123)
2	ILLUMINA	ss67165913	Nov 30, 2006 (127)
3	ILLUMINA	ss67518360	Nov 30, 2006 (127)
4	ILLUMINA	ss68169217	Dec 12, 2006 (127)
5	ILLUMINA	ss70649007	May 24, 2008 (130)
6	ILLUMINA	ss71205261	May 17, 2007 (127)
7	ILLUMINA	ss75617663	Dec 07, 2007 (129)
8	HGSV	ss81061296	Dec 14, 2007 (130)
9	KRIBB_YJKIM	ss85348197	Dec 14, 2007 (130)
10	1000GENOMES	ss113809335	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss118933504	Feb 15, 2009 (130)
12	ILLUMINA	ss153595940	Dec 01, 2009 (131)
13	ILLUMINA	ss159302269	Dec 01, 2009 (131)
14	ILLUMINA	ss160409497	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss170395835	Jul 04, 2010 (132)
16	ILLUMINA	ss172701751	Jul 04, 2010 (132)
17	BUSHMAN	ss198441577	Jul 04, 2010 (132)
18	1000GENOMES	ss225851170	Jul 14, 2010 (132)
19	1000GENOMES	ss236006529	Jul 15, 2010 (132)
20	1000GENOMES	ss242550842	Jul 15, 2010 (132)
21	GMI	ss281469189	May 04, 2012 (137)
22	ILLUMINA	ss480140598	May 04, 2012 (137)
23	ILLUMINA	ss480149828	May 04, 2012 (137)
24	ILLUMINA	ss480854747	Sep 08, 2015 (146)
25	ILLUMINA	ss484868302	May 04, 2012 (137)
26	ILLUMINA	ss536931898	Sep 08, 2015 (146)
27	TISHKOFF	ss563276728	Apr 25, 2013 (138)
28	SSMP	ss658846747	Apr 25, 2013 (138)
29	ILLUMINA	ss778824486	Aug 21, 2014 (142)
30	ILLUMINA	ss782880573	Aug 21, 2014 (142)
31	ILLUMINA	ss783844346	Aug 21, 2014 (142)
32	ILLUMINA	ss832134892	Apr 01, 2015 (144)
33	ILLUMINA	ss832814350	Aug 21, 2014 (142)
34	ILLUMINA	ss833405180	Aug 21, 2014 (142)
35	ILLUMINA	ss834284873	Aug 21, 2014 (142)
36	EVA-GONL	ss989732114	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1078606403	Aug 21, 2014 (142)
38	1000GENOMES	ss1345778381	Aug 21, 2014 (142)
39	DDI	ss1426991745	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1576397427	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1628986505	Apr 01, 2015 (144)
42	EVA_DECODE	ss1641829170	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1671980538	Apr 01, 2015 (144)
44	EVA_SVP	ss1713341954	Apr 01, 2015 (144)
45	ILLUMINA	ss1752082647	Sep 08, 2015 (146)
46	HAMMER_LAB	ss1807328891	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1933094780	Feb 12, 2016 (147)
48	ILLUMINA	ss1946344471	Feb 12, 2016 (147)
49	ILLUMINA	ss1959450357	Feb 12, 2016 (147)
50	JJLAB	ss2027298878	Sep 14, 2016 (149)
51	ILLUMINA	ss2094793880	Dec 20, 2016 (150)
52	ILLUMINA	ss2095037927	Dec 20, 2016 (150)
53	USC_VALOUEV	ss2155642244	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2191370025	Dec 20, 2016 (150)
55	ILLUMINA	ss2632982599	Nov 08, 2017 (151)
56	GRF	ss2699994323	Nov 08, 2017 (151)
57	ILLUMINA	ss2710766167	Nov 08, 2017 (151)
58	GNOMAD	ss2912710468	Nov 08, 2017 (151)
59	SWEGEN	ss3010001339	Nov 08, 2017 (151)
60	ILLUMINA	ss3021447831	Nov 08, 2017 (151)
61	BIOINF_KMB_FNS_UNIBA	ss3027459701	Nov 08, 2017 (151)
62	CSHL	ss3350151633	Nov 08, 2017 (151)
63	ILLUMINA	ss3625627348	Oct 12, 2018 (152)
64	ILLUMINA	ss3626920890	Oct 12, 2018 (152)
65	ILLUMINA	ss3630990533	Oct 12, 2018 (152)
66	ILLUMINA	ss3633027026	Oct 12, 2018 (152)
67	ILLUMINA	ss3633728274	Oct 12, 2018 (152)
68	ILLUMINA	ss3634514172	Oct 12, 2018 (152)
69	ILLUMINA	ss3635418885	Oct 12, 2018 (152)
70	ILLUMINA	ss3636199753	Oct 12, 2018 (152)
71	ILLUMINA	ss3637169883	Oct 12, 2018 (152)
72	ILLUMINA	ss3637974531	Oct 12, 2018 (152)
73	ILLUMINA	ss3639000503	Oct 12, 2018 (152)
74	ILLUMINA	ss3639810652	Oct 12, 2018 (152)
75	ILLUMINA	ss3640221505	Oct 12, 2018 (152)
76	ILLUMINA	ss3642967136	Oct 12, 2018 (152)
77	ILLUMINA	ss3643862083	Oct 12, 2018 (152)
78	ILLUMINA	ss3644597455	Oct 12, 2018 (152)
79	ILLUMINA	ss3651828763	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3677278493	Jul 13, 2019 (153)
81	EVA_DECODE	ss3694043475	Jul 13, 2019 (153)
82	ILLUMINA	ss3725340490	Jul 13, 2019 (153)
83	ACPOP	ss3739189424	Jul 13, 2019 (153)
84	ILLUMINA	ss3744102060	Jul 13, 2019 (153)
85	ILLUMINA	ss3744814873	Jul 13, 2019 (153)
86	EVA	ss3750706906	Jul 13, 2019 (153)
87	PAGE_CC	ss3771703823	Jul 13, 2019 (153)
88	ILLUMINA	ss3772314235	Jul 13, 2019 (153)
89	KHV_HUMAN_GENOMES	ss3816041804	Jul 13, 2019 (153)
90	EVA	ss3833219079	Apr 27, 2020 (154)
91	HGDP	ss3847457098	Apr 27, 2020 (154)
92	SGDP_PRJ	ss3878670113	Apr 27, 2020 (154)
93	KRGDB	ss3927353433	Apr 27, 2020 (154)
94	KOGIC	ss3972306328	Apr 27, 2020 (154)
95	EVA	ss3984669902	Apr 26, 2021 (155)
96	EVA	ss3985601945	Apr 26, 2021 (155)
97	EVA	ss4017599247	Apr 26, 2021 (155)
98	TOPMED	ss4925096782	Apr 26, 2021 (155)
99	TOMMO_GENOMICS	ss5207189499	Apr 26, 2021 (155)
100	EVA	ss5237514728	Apr 26, 2021 (155)
101	1000G_HIGH_COVERAGE	ss5291481534	Oct 16, 2022 (156)
102	GENOGRAPHIC	ss5314552295	Oct 16, 2022 (156)
103	EVA	ss5315634121	Oct 16, 2022 (156)
104	EVA	ss5406850569	Oct 16, 2022 (156)
105	HUGCELL_USP	ss5486157669	Oct 16, 2022 (156)
106	1000G_HIGH_COVERAGE	ss5589315657	Oct 16, 2022 (156)
107	SANFORD_IMAGENETICS	ss5624306424	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5653533083	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5757232482	Oct 16, 2022 (156)
110	EVA	ss5799877774	Oct 16, 2022 (156)
111	YY_MCH	ss5813462501	Oct 16, 2022 (156)
112	EVA	ss5838222644	Oct 16, 2022 (156)
113	EVA	ss5847412134	Oct 16, 2022 (156)
114	EVA	ss5847676665	Oct 16, 2022 (156)
115	EVA	ss5850458345	Oct 16, 2022 (156)
116	EVA	ss5905153909	Oct 16, 2022 (156)
117	EVA	ss5944911373	Oct 16, 2022 (156)
118	EVA	ss5979397169	Oct 16, 2022 (156)
119	1000Genomes	NC_000012.11 - 79738884	Oct 12, 2018 (152)
120	1000Genomes_30x	NC_000012.12 - 79345104	Oct 16, 2022 (156)
121	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 79738884	Oct 12, 2018 (152)
122	Genetic variation in the Estonian population	NC_000012.11 - 79738884	Oct 12, 2018 (152)
123	Genographic Project	NC_000012.12 - 79345104	Oct 16, 2022 (156)
124	The Danish reference pan genome	NC_000012.11 - 79738884	Apr 27, 2020 (154)
125	gnomAD - Genomes	NC_000012.12 - 79345104	Apr 26, 2021 (155)
126	Genome of the Netherlands Release 5	NC_000012.11 - 79738884	Apr 27, 2020 (154)
127	HGDP-CEPH-db Supplement 1	NC_000012.10 - 78263015	Apr 27, 2020 (154)
128	HapMap	NC_000012.12 - 79345104	Apr 27, 2020 (154)
129	KOREAN population from KRGDB	NC_000012.11 - 79738884	Apr 27, 2020 (154)
130	Korean Genome Project	NC_000012.12 - 79345104	Apr 27, 2020 (154)
131	Northern Sweden	NC_000012.11 - 79738884	Jul 13, 2019 (153)
132	The PAGE Study	NC_000012.12 - 79345104	Jul 13, 2019 (153)
133	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 79738884	Apr 26, 2021 (155)
134	CNV burdens in cranial meningiomas	NC_000012.11 - 79738884	Apr 26, 2021 (155)
135	Qatari	NC_000012.11 - 79738884	Apr 27, 2020 (154)
136	SGDP_PRJ	NC_000012.11 - 79738884	Apr 27, 2020 (154)
137	Siberian	NC_000012.11 - 79738884	Apr 27, 2020 (154)
138	8.3KJPN	NC_000012.11 - 79738884	Apr 26, 2021 (155)
139	14KJPN	NC_000012.12 - 79345104	Oct 16, 2022 (156)
140	TopMed	NC_000012.12 - 79345104	Apr 26, 2021 (155)
141	UK 10K study - Twins	NC_000012.11 - 79738884	Oct 12, 2018 (152)
142	A Vietnamese Genetic Variation Database	NC_000012.11 - 79738884	Jul 13, 2019 (153)
143	ALFA	NC_000012.12 - 79345104	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).

Associated ID	History Updated (Build)
rs57960437	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81061296, ss3639000503, ss3639810652, ss3643862083	NC_000012.9:78241351:T:C	NC_000012.12:79345103:T:C	(self)
134990, ss113809335, ss118933504, ss160409497, ss170395835, ss198441577, ss281469189, ss480140598, ss1641829170, ss1713341954, ss3642967136, ss3847457098	NC_000012.10:78263014:T:C	NC_000012.12:79345103:T:C	(self)
58556269, 32510932, 23016741, 3039774, 14506250, 34530827, 12474289, 827872, 219395, 15136710, 30687093, 8158598, 65158806, 32510932, 7216848, ss225851170, ss236006529, ss242550842, ss480149828, ss480854747, ss484868302, ss536931898, ss563276728, ss658846747, ss778824486, ss782880573, ss783844346, ss832134892, ss832814350, ss833405180, ss834284873, ss989732114, ss1078606403, ss1345778381, ss1426991745, ss1576397427, ss1628986505, ss1671980538, ss1752082647, ss1807328891, ss1933094780, ss1946344471, ss1959450357, ss2027298878, ss2094793880, ss2095037927, ss2155642244, ss2632982599, ss2699994323, ss2710766167, ss2912710468, ss3010001339, ss3021447831, ss3350151633, ss3625627348, ss3626920890, ss3630990533, ss3633027026, ss3633728274, ss3634514172, ss3635418885, ss3636199753, ss3637169883, ss3637974531, ss3640221505, ss3644597455, ss3651828763, ss3677278493, ss3739189424, ss3744102060, ss3744814873, ss3750706906, ss3772314235, ss3833219079, ss3878670113, ss3927353433, ss3984669902, ss3985601945, ss4017599247, ss5207189499, ss5237514728, ss5315634121, ss5406850569, ss5624306424, ss5653533083, ss5799877774, ss5838222644, ss5847412134, ss5847676665, ss5944911373, ss5979397169	NC_000012.11:79738883:T:C	NC_000012.12:79345103:T:C	(self)
76841592, 107526, 412975780, 858722, 28684329, 925292, 91069586, 140642439, 4532212292, ss2191370025, ss3027459701, ss3694043475, ss3725340490, ss3771703823, ss3816041804, ss3972306328, ss4925096782, ss5291481534, ss5314552295, ss5486157669, ss5589315657, ss5757232482, ss5813462501, ss5850458345, ss5905153909	NC_000012.12:79345103:T:C	NC_000012.12:79345103:T:C	(self)
ss23403729, ss67165913, ss67518360, ss68169217, ss70649007, ss71205261, ss75617663, ss85348197, ss153595940, ss159302269, ss172701751	NT_029419.12:41882189:T:C	NC_000012.12:79345103:T:C	(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 rs17005500

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

rs17005500