Name: rs17758761
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.

rs17758761

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:55977164 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.044509 (11781/264690, TOPMED)
C=0.038900 (5989/153958, ALFA)
C=0.040120 (5625/140206, GnomAD) (+ 21 more)
C=0.04678 (1322/28258, 14KJPN)
C=0.04821 (808/16760, 8.3KJPN)
C=0.0611 (391/6404, 1000G_30x)
C=0.0619 (310/5008, 1000G)
C=0.0187 (84/4480, Estonian)
C=0.0265 (102/3854, ALSPAC)
C=0.0278 (103/3708, TWINSUK)
C=0.0478 (140/2930, KOREAN)
C=0.0672 (140/2084, HGDP_Stanford)
C=0.0640 (121/1892, HapMap)
C=0.0573 (105/1832, Korea1K)
C=0.020 (20/998, GoNL)
C=0.082 (65/790, PRJEB37584)
C=0.032 (19/600, NorthernSweden)
C=0.074 (16/216, Qatari)
C=0.042 (9/212, Vietnamese)
A=0.46 (39/84, SGDP_PRJ)
C=0.00 (0/42, Ancient Sardinia)
C=0.05 (2/40, GENOME_DK)
A=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 2 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	153958	A=0.961100	C=0.038900
European	Sub	131776	A=0.961624	C=0.038376
African	Sub	7352	A=0.9445	C=0.0555
African Others	Sub	254	A=0.933	C=0.067
African American	Sub	7098	A=0.9449	C=0.0551
Asian	Sub	676	A=0.948	C=0.052
East Asian	Sub	512	A=0.945	C=0.055
Other Asian	Sub	164	A=0.957	C=0.043
Latin American 1	Sub	816	A=0.962	C=0.038
Latin American 2	Sub	6462	A=0.9754	C=0.0246
South Asian	Sub	196	A=0.929	C=0.071
Other	Sub	6680	A=0.9573	C=0.0427

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=0.955491	C=0.044509
Allele Frequency Aggregator	Total	Global	153958	A=0.961100	C=0.038900
Allele Frequency Aggregator	European	Sub	131776	A=0.961624	C=0.038376
Allele Frequency Aggregator	African	Sub	7352	A=0.9445	C=0.0555
Allele Frequency Aggregator	Other	Sub	6680	A=0.9573	C=0.0427
Allele Frequency Aggregator	Latin American 2	Sub	6462	A=0.9754	C=0.0246
Allele Frequency Aggregator	Latin American 1	Sub	816	A=0.962	C=0.038
Allele Frequency Aggregator	Asian	Sub	676	A=0.948	C=0.052
Allele Frequency Aggregator	South Asian	Sub	196	A=0.929	C=0.071
gnomAD - Genomes	Global	Study-wide	140206	A=0.959880	C=0.040120
gnomAD - Genomes	European	Sub	75936	A=0.97087	C=0.02913
gnomAD - Genomes	African	Sub	42008	A=0.94313	C=0.05687
gnomAD - Genomes	American	Sub	13658	A=0.96354	C=0.03646
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.9338	C=0.0662
gnomAD - Genomes	East Asian	Sub	3126	A=0.9315	C=0.0685
gnomAD - Genomes	Other	Sub	2154	A=0.9573	C=0.0427
14KJPN	JAPANESE	Study-wide	28258	A=0.95322	C=0.04678
8.3KJPN	JAPANESE	Study-wide	16760	A=0.95179	C=0.04821
1000Genomes_30x	Global	Study-wide	6404	A=0.9389	C=0.0611
1000Genomes_30x	African	Sub	1786	A=0.9283	C=0.0717
1000Genomes_30x	Europe	Sub	1266	A=0.9526	C=0.0474
1000Genomes_30x	South Asian	Sub	1202	A=0.8985	C=0.1015
1000Genomes_30x	East Asian	Sub	1170	A=0.9419	C=0.0581
1000Genomes_30x	American	Sub	980	A=0.987	C=0.013
1000Genomes	Global	Study-wide	5008	A=0.9381	C=0.0619
1000Genomes	African	Sub	1322	A=0.9334	C=0.0666
1000Genomes	East Asian	Sub	1008	A=0.9395	C=0.0605
1000Genomes	Europe	Sub	1006	A=0.9523	C=0.0477
1000Genomes	South Asian	Sub	978	A=0.896	C=0.104
1000Genomes	American	Sub	694	A=0.984	C=0.016
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9812	C=0.0187
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9735	C=0.0265
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9722	C=0.0278
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9522	C=0.0478
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.9328	C=0.0672
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.917	C=0.083
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.952	C=0.048
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.929	C=0.071
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.956	C=0.044
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.872	C=0.128
HGDP-CEPH-db Supplement 1	America	Sub	216	A=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.85	C=0.15
HapMap	Global	Study-wide	1892	A=0.9360	C=0.0640
HapMap	American	Sub	770	A=0.956	C=0.044
HapMap	African	Sub	692	A=0.915	C=0.085
HapMap	Asian	Sub	254	A=0.953	C=0.047
HapMap	Europe	Sub	176	A=0.909	C=0.091
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9427	C=0.0573
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.980	C=0.020
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.918	C=0.082
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.918	C=0.082
Northern Sweden	ACPOP	Study-wide	600	A=0.968	C=0.032
Qatari	Global	Study-wide	216	A=0.926	C=0.074
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.958	C=0.042
SGDP_PRJ	Global	Study-wide	84	A=0.46	C=0.54
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	42	A=1.00	C=0.00
The Danish reference pan genome	Danish	Study-wide	40	A=0.95	C=0.05
Siberian	Global	Study-wide	4	A=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 17	NC_000017.11:g.55977164A>C
GRCh37.p13 chr 17	NC_000017.10:g.54054525A>C

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=	C
GRCh38.p14 chr 17	NC_000017.11:g.55977164=	NC_000017.11:g.55977164A>C
GRCh37.p13 chr 17	NC_000017.10:g.54054525=	NC_000017.10:g.54054525A>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#.

89 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24702934	Sep 20, 2004 (123)
2	AFFY	ss66346932	Dec 01, 2006 (127)
3	ILLUMINA	ss67578167	Dec 01, 2006 (127)
4	ILLUMINA	ss71234292	May 17, 2007 (127)
5	ILLUMINA	ss75401869	Dec 07, 2007 (129)
6	AFFY	ss76055671	Dec 07, 2007 (129)
7	KRIBB_YJKIM	ss83279067	Dec 17, 2007 (130)
8	BGI	ss103352574	Feb 23, 2009 (131)
9	1000GENOMES	ss113651988	Jan 25, 2009 (130)
10	ILLUMINA	ss160456372	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss169857480	Jul 04, 2010 (132)
12	AFFY	ss172342075	Jul 04, 2010 (132)
13	ILLUMINA	ss172892056	Jul 04, 2010 (132)
14	1000GENOMES	ss227590365	Jul 14, 2010 (132)
15	1000GENOMES	ss237276763	Jul 15, 2010 (132)
16	1000GENOMES	ss243565711	Jul 15, 2010 (132)
17	GMI	ss287194570	Apr 25, 2013 (138)
18	GMI	ss475831272	May 04, 2012 (137)
19	ILLUMINA	ss480280808	May 04, 2012 (137)
20	ILLUMINA	ss480292001	May 04, 2012 (137)
21	ILLUMINA	ss481041310	Sep 08, 2015 (146)
22	ILLUMINA	ss484938360	May 04, 2012 (137)
23	ILLUMINA	ss536984280	Sep 08, 2015 (146)
24	SSMP	ss661135132	Apr 25, 2013 (138)
25	ILLUMINA	ss778839452	Sep 08, 2015 (146)
26	ILLUMINA	ss782915477	Sep 08, 2015 (146)
27	ILLUMINA	ss783878630	Sep 08, 2015 (146)
28	ILLUMINA	ss832170516	Sep 08, 2015 (146)
29	ILLUMINA	ss834299987	Sep 08, 2015 (146)
30	EVA-GONL	ss993199802	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1081121313	Aug 21, 2014 (142)
32	1000GENOMES	ss1359012272	Aug 21, 2014 (142)
33	EVA_GENOME_DK	ss1578194197	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1635831470	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1678825503	Apr 01, 2015 (144)
36	EVA_DECODE	ss1697245813	Apr 01, 2015 (144)
37	EVA_SVP	ss1713588872	Apr 01, 2015 (144)
38	ILLUMINA	ss1752231454	Sep 08, 2015 (146)
39	HAMMER_LAB	ss1808821334	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1936661456	Feb 12, 2016 (147)
41	JJLAB	ss2029106484	Sep 14, 2016 (149)
42	ILLUMINA	ss2095075912	Dec 20, 2016 (150)
43	USC_VALOUEV	ss2157583742	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2217562490	Dec 20, 2016 (150)
45	ILLUMINA	ss2633407379	Nov 08, 2017 (151)
46	GRF	ss2702145085	Nov 08, 2017 (151)
47	GNOMAD	ss2950930305	Nov 08, 2017 (151)
48	SWEGEN	ss3015687113	Nov 08, 2017 (151)
49	ILLUMINA	ss3627690213	Oct 12, 2018 (152)
50	ILLUMINA	ss3631387731	Oct 12, 2018 (152)
51	ILLUMINA	ss3633144378	Oct 12, 2018 (152)
52	ILLUMINA	ss3633852094	Oct 12, 2018 (152)
53	ILLUMINA	ss3634680056	Oct 12, 2018 (152)
54	ILLUMINA	ss3635539783	Oct 12, 2018 (152)
55	ILLUMINA	ss3636369502	Oct 12, 2018 (152)
56	ILLUMINA	ss3637291341	Oct 12, 2018 (152)
57	ILLUMINA	ss3638166981	Oct 12, 2018 (152)
58	ILLUMINA	ss3640387366	Oct 12, 2018 (152)
59	ILLUMINA	ss3643144963	Oct 12, 2018 (152)
60	BIOINF_KMB_FNS_UNIBA	ss3645458579	Oct 12, 2018 (152)
61	ILLUMINA	ss3652207616	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3682564393	Jul 13, 2019 (153)
63	EVA_DECODE	ss3700648705	Jul 13, 2019 (153)
64	ACPOP	ss3742104366	Jul 13, 2019 (153)
65	ILLUMINA	ss3744980324	Jul 13, 2019 (153)
66	EVA	ss3754775019	Jul 13, 2019 (153)
67	ILLUMINA	ss3772478129	Jul 13, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3820041386	Jul 13, 2019 (153)
69	HGDP	ss3847566577	Apr 27, 2020 (154)
70	SGDP_PRJ	ss3885940108	Apr 27, 2020 (154)
71	KRGDB	ss3935663979	Apr 27, 2020 (154)
72	KOGIC	ss3979018435	Apr 27, 2020 (154)
73	EVA	ss3984724621	Apr 26, 2021 (155)
74	EVA	ss3985795893	Apr 26, 2021 (155)
75	EVA	ss4017771682	Apr 26, 2021 (155)
76	TOPMED	ss5039163366	Apr 26, 2021 (155)
77	TOMMO_GENOMICS	ss5222849983	Apr 26, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5303454259	Oct 16, 2022 (156)
79	EVA	ss5315892696	Oct 16, 2022 (156)
80	HUGCELL_USP	ss5496468913	Oct 16, 2022 (156)
81	1000G_HIGH_COVERAGE	ss5607332705	Oct 16, 2022 (156)
82	SANFORD_IMAGENETICS	ss5660281959	Oct 16, 2022 (156)
83	TOMMO_GENOMICS	ss5779194086	Oct 16, 2022 (156)
84	EVA	ss5799978000	Oct 16, 2022 (156)
85	YY_MCH	ss5816616614	Oct 16, 2022 (156)
86	EVA	ss5834108069	Oct 16, 2022 (156)
87	EVA	ss5851843216	Oct 16, 2022 (156)
88	EVA	ss5914293186	Oct 16, 2022 (156)
89	EVA	ss5951674550	Oct 16, 2022 (156)
90	1000Genomes	NC_000017.10 - 54054525	Oct 12, 2018 (152)
91	1000Genomes_30x	NC_000017.11 - 55977164	Oct 16, 2022 (156)
92	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 54054525	Oct 12, 2018 (152)
93	Genetic variation in the Estonian population	NC_000017.10 - 54054525	Oct 12, 2018 (152)
94	The Danish reference pan genome	NC_000017.10 - 54054525	Apr 27, 2020 (154)
95	gnomAD - Genomes	NC_000017.11 - 55977164	Apr 26, 2021 (155)
96	Genome of the Netherlands Release 5	NC_000017.10 - 54054525	Apr 27, 2020 (154)
97	HGDP-CEPH-db Supplement 1	NC_000017.9 - 51409524	Apr 27, 2020 (154)
98	HapMap	NC_000017.11 - 55977164	Apr 27, 2020 (154)
99	KOREAN population from KRGDB	NC_000017.10 - 54054525	Apr 27, 2020 (154)
100	Korean Genome Project	NC_000017.11 - 55977164	Apr 27, 2020 (154)
101	Northern Sweden	NC_000017.10 - 54054525	Jul 13, 2019 (153)
102	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 54054525	Apr 26, 2021 (155)
103	CNV burdens in cranial meningiomas	NC_000017.10 - 54054525	Apr 26, 2021 (155)
104	Qatari	NC_000017.10 - 54054525	Apr 27, 2020 (154)
105	SGDP_PRJ	NC_000017.10 - 54054525	Apr 27, 2020 (154)
106	Siberian	NC_000017.10 - 54054525	Apr 27, 2020 (154)
107	8.3KJPN	NC_000017.10 - 54054525	Apr 26, 2021 (155)
108	14KJPN	NC_000017.11 - 55977164	Oct 16, 2022 (156)
109	TopMed	NC_000017.11 - 55977164	Apr 26, 2021 (155)
110	UK 10K study - Twins	NC_000017.10 - 54054525	Oct 12, 2018 (152)
111	A Vietnamese Genetic Variation Database	NC_000017.10 - 54054525	Jul 13, 2019 (153)
112	ALFA	NC_000017.11 - 55977164	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)
rs61718825	Feb 26, 2009 (130)
rs74255993	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
244469, ss66346932, ss76055671, ss113651988, ss169857480, ss172342075, ss287194570, ss475831272, ss480280808, ss1697245813, ss1713588872, ss3643144963, ss3847566577	NC_000017.9:51409523:A:C	NC_000017.11:55977163:A:C	(self)
72267827, 40047622, 28302641, 4394969, 17847605, 42841373, 15389231, 1021820, 274169, 18703378, 37957088, 10100096, 80819290, 40047622, 8858604, ss227590365, ss237276763, ss243565711, ss480292001, ss481041310, ss484938360, ss536984280, ss661135132, ss778839452, ss782915477, ss783878630, ss832170516, ss834299987, ss993199802, ss1081121313, ss1359012272, ss1578194197, ss1635831470, ss1678825503, ss1752231454, ss1808821334, ss1936661456, ss2029106484, ss2095075912, ss2157583742, ss2633407379, ss2702145085, ss2950930305, ss3015687113, ss3627690213, ss3631387731, ss3633144378, ss3633852094, ss3634680056, ss3635539783, ss3636369502, ss3637291341, ss3638166981, ss3640387366, ss3652207616, ss3682564393, ss3742104366, ss3744980324, ss3754775019, ss3772478129, ss3885940108, ss3935663979, ss3984724621, ss3985795893, ss4017771682, ss5222849983, ss5315892696, ss5660281959, ss5799978000, ss5834108069, ss5951674550	NC_000017.10:54054524:A:C	NC_000017.11:55977163:A:C	(self)
94858640, 509936912, 1504141, 35396436, 113031190, 254709028, 9700832115, ss2217562490, ss3645458579, ss3700648705, ss3820041386, ss3979018435, ss5039163366, ss5303454259, ss5496468913, ss5607332705, ss5779194086, ss5816616614, ss5851843216, ss5914293186	NC_000017.11:55977163:A:C	NC_000017.11:55977163:A:C	(self)
ss24702934, ss67578167, ss71234292, ss75401869, ss83279067, ss103352574, ss160456372, ss172892056	NT_010783.15:19328676:A:C	NC_000017.11:55977163:A:C	(self)

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

2 citations for rs17758761

PMID	Title	Author	Year	Journal
20007504	Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.		2010	Human molecular genetics
22194214	Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.	Varadé J et al.	2012	Multiple sclerosis (Houndmills, Basingstoke, England)

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

rs17758761