Name: rs4924935
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.

rs4924935

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:18850557 (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=0.296987 (101194/340736, ALFA)
C=0.251702 (66623/264690, TOPMED)
C=0.262172 (36701/139988, GnomAD) (+ 20 more)
C=0.21213 (16694/78698, PAGE_STUDY)
C=0.24188 (6835/28258, 14KJPN)
C=0.24266 (4067/16760, 8.3KJPN)
C=0.2413 (1545/6404, 1000G_30x)
C=0.2466 (1235/5008, 1000G)
C=0.2750 (1232/4480, Estonian)
C=0.3321 (1280/3854, ALSPAC)
C=0.3266 (1211/3708, TWINSUK)
C=0.1212 (355/2930, KOREAN)
C=0.2044 (426/2084, HGDP_Stanford)
C=0.2320 (438/1888, HapMap)
C=0.1152 (211/1832, Korea1K)
C=0.307 (306/998, GoNL)
C=0.288 (173/600, NorthernSweden)
C=0.192 (100/522, SGDP_PRJ)
C=0.245 (53/216, Qatari)
C=0.145 (31/214, Vietnamese)
C=0.16 (12/74, Ancient Sardinia)
C=0.22 (11/50, Siberian)
C=0.35 (14/40, GENOME_DK)

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	345988	C=0.296672	G=0.000000, T=0.703328
European	Sub	299974	C=0.305710	G=0.000000, T=0.694290
African	Sub	8676	C=0.1958	G=0.0000, T=0.8042
African Others	Sub	348	C=0.164	G=0.000, T=0.836
African American	Sub	8328	C=0.1972	G=0.0000, T=0.8028
Asian	Sub	6922	C=0.1280	G=0.0000, T=0.8720
East Asian	Sub	4984	C=0.1178	G=0.0000, T=0.8822
Other Asian	Sub	1938	C=0.1543	G=0.0000, T=0.8457
Latin American 1	Sub	1134	C=0.2522	G=0.0000, T=0.7478
Latin American 2	Sub	7224	C=0.2028	G=0.0000, T=0.7972
South Asian	Sub	5222	C=0.3979	G=0.0000, T=0.6021
Other	Sub	16836	C=0.26883	G=0.00000, T=0.73117

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	340736	C=0.296987	G=0.000000, T=0.703013
Allele Frequency Aggregator	European	Sub	296700	C=0.305642	G=0.000000, T=0.694358
Allele Frequency Aggregator	Other	Sub	16014	C=0.26945	G=0.00000, T=0.73055
Allele Frequency Aggregator	African	Sub	7520	C=0.1968	G=0.0000, T=0.8032
Allele Frequency Aggregator	Latin American 2	Sub	7224	C=0.2028	G=0.0000, T=0.7972
Allele Frequency Aggregator	Asian	Sub	6922	C=0.1280	G=0.0000, T=0.8720
Allele Frequency Aggregator	South Asian	Sub	5222	C=0.3979	G=0.0000, T=0.6021
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.2522	G=0.0000, T=0.7478
TopMed	Global	Study-wide	264690	C=0.251702	T=0.748298
gnomAD - Genomes	Global	Study-wide	139988	C=0.262172	T=0.737828
gnomAD - Genomes	European	Sub	75832	C=0.30732	T=0.69268
gnomAD - Genomes	African	Sub	41920	C=0.19847	T=0.80153
gnomAD - Genomes	American	Sub	13644	C=0.23439	T=0.76561
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.2717	T=0.7283
gnomAD - Genomes	East Asian	Sub	3128	C=0.1314	T=0.8686
gnomAD - Genomes	Other	Sub	2144	C=0.2635	T=0.7365
The PAGE Study	Global	Study-wide	78698	C=0.21213	T=0.78787
The PAGE Study	AfricanAmerican	Sub	32514	C=0.19951	T=0.80049
The PAGE Study	Mexican	Sub	10810	C=0.19870	T=0.80130
The PAGE Study	Asian	Sub	8318	C=0.2246	T=0.7754
The PAGE Study	PuertoRican	Sub	7918	C=0.2345	T=0.7655
The PAGE Study	NativeHawaiian	Sub	4532	C=0.1743	T=0.8257
The PAGE Study	Cuban	Sub	4230	C=0.2612	T=0.7388
The PAGE Study	Dominican	Sub	3828	C=0.2312	T=0.7688
The PAGE Study	CentralAmerican	Sub	2450	C=0.1739	T=0.8261
The PAGE Study	SouthAmerican	Sub	1982	C=0.2361	T=0.7639
The PAGE Study	NativeAmerican	Sub	1260	C=0.2484	T=0.7516
The PAGE Study	SouthAsian	Sub	856	C=0.405	T=0.595
14KJPN	JAPANESE	Study-wide	28258	C=0.24188	T=0.75812
8.3KJPN	JAPANESE	Study-wide	16760	C=0.24266	T=0.75734
1000Genomes_30x	Global	Study-wide	6404	C=0.2413	T=0.7587
1000Genomes_30x	African	Sub	1786	C=0.1685	T=0.8315
1000Genomes_30x	Europe	Sub	1266	C=0.2962	T=0.7038
1000Genomes_30x	South Asian	Sub	1202	C=0.4326	T=0.5674
1000Genomes_30x	East Asian	Sub	1170	C=0.1274	T=0.8726
1000Genomes_30x	American	Sub	980	C=0.204	T=0.796
1000Genomes	Global	Study-wide	5008	C=0.2466	T=0.7534
1000Genomes	African	Sub	1322	C=0.1657	T=0.8343
1000Genomes	East Asian	Sub	1008	C=0.1359	T=0.8641
1000Genomes	Europe	Sub	1006	C=0.2992	T=0.7008
1000Genomes	South Asian	Sub	978	C=0.439	T=0.561
1000Genomes	American	Sub	694	C=0.215	T=0.785
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2750	T=0.7250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3321	T=0.6679
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3266	T=0.6734
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1212	G=0.0000, T=0.8788
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.2044	T=0.7956
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.134	T=0.866
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.302	T=0.698
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.249	T=0.751
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.303	T=0.697
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.083	T=0.917
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.120	T=0.880
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.11	T=0.89
HapMap	Global	Study-wide	1888	C=0.2320	T=0.7680
HapMap	American	Sub	768	C=0.277	T=0.723
HapMap	African	Sub	690	C=0.187	T=0.813
HapMap	Asian	Sub	254	C=0.181	T=0.819
HapMap	Europe	Sub	176	C=0.284	T=0.716
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1152	T=0.8848
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.307	T=0.693
Northern Sweden	ACPOP	Study-wide	600	C=0.288	T=0.712
SGDP_PRJ	Global	Study-wide	522	C=0.192	T=0.808
Qatari	Global	Study-wide	216	C=0.245	T=0.755
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.145	T=0.855
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	C=0.16	T=0.84
Siberian	Global	Study-wide	50	C=0.22	T=0.78
The Danish reference pan genome	Danish	Study-wide	40	C=0.35	T=0.65

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.18850557C>G
GRCh38.p14 chr 17	NC_000017.11:g.18850557C>T
GRCh37.p13 chr 17	NC_000017.10:g.18753870C>G
GRCh37.p13 chr 17	NC_000017.10:g.18753870C>T

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 17	NC_000017.11:g.18850557=	NC_000017.11:g.18850557C>G	NC_000017.11:g.18850557C>T
GRCh37.p13 chr 17	NC_000017.10:g.18753870=	NC_000017.10:g.18753870C>G	NC_000017.10:g.18753870C>T
LOC101929141 transcript	XM_005256901.1:c.1314-1382=	XM_005256901.1:c.1314-1382C>G	XM_005256901.1:c.1314-1382C>T

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#.

171 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6809055	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss12384593	Jul 11, 2003 (116)
3	BCM_SSAHASNP	ss14282765	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss19357456	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss20032200	Feb 27, 2004 (120)
6	SSAHASNP	ss21397279	Apr 05, 2004 (121)
7	PERLEGEN	ss24589437	Sep 20, 2004 (126)
8	ABI	ss44022013	Mar 11, 2006 (126)
9	ILLUMINA	ss66588985	Dec 02, 2006 (127)
10	ILLUMINA	ss67399588	Dec 02, 2006 (127)
11	ILLUMINA	ss67769517	Dec 02, 2006 (127)
12	ILLUMINA	ss70836506	May 23, 2008 (130)
13	ILLUMINA	ss71419815	May 18, 2007 (127)
14	ILLUMINA	ss74953990	Dec 06, 2007 (129)
15	HGSV	ss77754584	Dec 06, 2007 (129)
16	HGSV	ss78694692	Dec 06, 2007 (129)
17	ILLUMINA	ss79202782	Dec 14, 2007 (130)
18	KRIBB_YJKIM	ss84400283	Dec 14, 2007 (130)
19	HGSV	ss85836317	Dec 14, 2007 (130)
20	HGSV	ss86069516	Dec 14, 2007 (130)
21	BCMHGSC_JDW	ss90553502	Mar 24, 2008 (129)
22	HUMANGENOME_JCVI	ss96584197	Feb 02, 2009 (130)
23	BGI	ss103336199	Dec 01, 2009 (131)
24	1000GENOMES	ss109689467	Jan 24, 2009 (130)
25	1000GENOMES	ss113378022	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss118019027	Feb 14, 2009 (130)
27	ILLUMINA	ss122432646	Dec 01, 2009 (131)
28	ENSEMBL	ss132570907	Dec 01, 2009 (131)
29	ENSEMBL	ss137005447	Dec 01, 2009 (131)
30	ILLUMINA	ss154329438	Dec 01, 2009 (131)
31	GMI	ss157898494	Dec 01, 2009 (131)
32	ILLUMINA	ss159505964	Dec 01, 2009 (131)
33	ILLUMINA	ss160728631	Dec 01, 2009 (131)
34	COMPLETE_GENOMICS	ss169258088	Jul 04, 2010 (132)
35	COMPLETE_GENOMICS	ss171256417	Jul 04, 2010 (132)
36	ILLUMINA	ss171979854	Jul 04, 2010 (132)
37	ILLUMINA	ss173876899	Jul 04, 2010 (132)
38	BUSHMAN	ss202314218	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss207808891	Jul 04, 2010 (132)
40	1000GENOMES	ss227493633	Jul 14, 2010 (132)
41	1000GENOMES	ss237204423	Jul 15, 2010 (132)
42	1000GENOMES	ss243511639	Jul 15, 2010 (132)
43	BL	ss255535128	May 09, 2011 (134)
44	GMI	ss282715633	May 04, 2012 (137)
45	GMI	ss287157885	Apr 25, 2013 (138)
46	PJP	ss292025788	May 09, 2011 (134)
47	ILLUMINA	ss481102793	May 04, 2012 (137)
48	ILLUMINA	ss481124796	May 04, 2012 (137)
49	ILLUMINA	ss482115541	Sep 08, 2015 (146)
50	ILLUMINA	ss485346472	May 04, 2012 (137)
51	EXOME_CHIP	ss491518811	May 04, 2012 (137)
52	ILLUMINA	ss537294253	Sep 08, 2015 (146)
53	TISHKOFF	ss565205244	Apr 25, 2013 (138)
54	SSMP	ss660998186	Apr 25, 2013 (138)
55	ILLUMINA	ss779044330	Sep 08, 2015 (146)
56	ILLUMINA	ss780685465	Sep 08, 2015 (146)
57	ILLUMINA	ss783118972	Sep 08, 2015 (146)
58	ILLUMINA	ss783358955	Sep 08, 2015 (146)
59	ILLUMINA	ss784075781	Sep 08, 2015 (146)
60	ILLUMINA	ss825533300	Apr 01, 2015 (144)
61	ILLUMINA	ss832377725	Sep 08, 2015 (146)
62	ILLUMINA	ss833017304	Jul 13, 2019 (153)
63	ILLUMINA	ss834507213	Sep 08, 2015 (146)
64	EVA-GONL	ss992985668	Aug 21, 2014 (142)
65	JMKIDD_LAB	ss1080977760	Aug 21, 2014 (142)
66	1000GENOMES	ss1358144161	Aug 21, 2014 (142)
67	DDI	ss1427996404	Apr 01, 2015 (144)
68	EVA_GENOME_DK	ss1578114268	Apr 01, 2015 (144)
69	EVA_UK10K_ALSPAC	ss1635405403	Apr 01, 2015 (144)
70	EVA_UK10K_TWINSUK	ss1678399436	Apr 01, 2015 (144)
71	EVA_DECODE	ss1697026968	Apr 01, 2015 (144)
72	EVA_SVP	ss1713574718	Apr 01, 2015 (144)
73	ILLUMINA	ss1752217869	Sep 08, 2015 (146)
74	ILLUMINA	ss1752217870	Sep 08, 2015 (146)
75	HAMMER_LAB	ss1808732055	Sep 08, 2015 (146)
76	ILLUMINA	ss1917915784	Feb 12, 2016 (147)
77	WEILL_CORNELL_DGM	ss1936439036	Feb 12, 2016 (147)
78	ILLUMINA	ss1946434899	Feb 12, 2016 (147)
79	ILLUMINA	ss1946434902	Feb 12, 2016 (147)
80	ILLUMINA	ss1959731478	Feb 12, 2016 (147)
81	ILLUMINA	ss1959731479	Feb 12, 2016 (147)
82	GENOMED	ss1968365803	Jul 19, 2016 (147)
83	JJLAB	ss2029004799	Sep 14, 2016 (149)
84	ILLUMINA	ss2094800964	Dec 20, 2016 (150)
85	ILLUMINA	ss2095071745	Dec 20, 2016 (150)
86	USC_VALOUEV	ss2157457204	Dec 20, 2016 (150)
87	HUMAN_LONGEVITY	ss2215943920	Dec 20, 2016 (150)
88	SYSTEMSBIOZJU	ss2628996769	Nov 08, 2017 (151)
89	ILLUMINA	ss2633383556	Nov 08, 2017 (151)
90	ILLUMINA	ss2633383557	Nov 08, 2017 (151)
91	ILLUMINA	ss2633383558	Nov 08, 2017 (151)
92	GRF	ss2702006969	Nov 08, 2017 (151)
93	ILLUMINA	ss2710846036	Nov 08, 2017 (151)
94	GNOMAD	ss2948376795	Nov 08, 2017 (151)
95	AFFY	ss2985088907	Nov 08, 2017 (151)
96	AFFY	ss2985726852	Nov 08, 2017 (151)
97	SWEGEN	ss3015299779	Nov 08, 2017 (151)
98	ILLUMINA	ss3021762904	Nov 08, 2017 (151)
99	ILLUMINA	ss3021762905	Nov 08, 2017 (151)
100	BIOINF_KMB_FNS_UNIBA	ss3028322382	Nov 08, 2017 (151)
101	CSHL	ss3351681604	Nov 08, 2017 (151)
102	ILLUMINA	ss3625706588	Oct 12, 2018 (152)
103	ILLUMINA	ss3627641224	Oct 12, 2018 (152)
104	ILLUMINA	ss3627641225	Oct 12, 2018 (152)
105	ILLUMINA	ss3631365585	Oct 12, 2018 (152)
106	ILLUMINA	ss3633137833	Oct 12, 2018 (152)
107	ILLUMINA	ss3633845090	Oct 12, 2018 (152)
108	ILLUMINA	ss3634668516	Oct 12, 2018 (152)
109	ILLUMINA	ss3634668517	Oct 12, 2018 (152)
110	ILLUMINA	ss3635532958	Oct 12, 2018 (152)
111	ILLUMINA	ss3636358439	Oct 12, 2018 (152)
112	ILLUMINA	ss3637284474	Oct 12, 2018 (152)
113	ILLUMINA	ss3638153395	Oct 12, 2018 (152)
114	ILLUMINA	ss3639087467	Oct 12, 2018 (152)
115	ILLUMINA	ss3639550502	Oct 12, 2018 (152)
116	ILLUMINA	ss3640375831	Oct 12, 2018 (152)
117	ILLUMINA	ss3640375832	Oct 12, 2018 (152)
118	ILLUMINA	ss3641078459	Oct 12, 2018 (152)
119	ILLUMINA	ss3641373914	Oct 12, 2018 (152)
120	ILLUMINA	ss3643132406	Oct 12, 2018 (152)
121	ILLUMINA	ss3644683820	Oct 12, 2018 (152)
122	ILLUMINA	ss3644683821	Oct 12, 2018 (152)
123	URBANLAB	ss3650617346	Oct 12, 2018 (152)
124	ILLUMINA	ss3652176218	Oct 12, 2018 (152)
125	ILLUMINA	ss3652176219	Oct 12, 2018 (152)
126	ILLUMINA	ss3653861512	Oct 12, 2018 (152)
127	EGCUT_WGS	ss3682250862	Jul 13, 2019 (153)
128	EVA_DECODE	ss3700203744	Jul 13, 2019 (153)
129	ILLUMINA	ss3725609269	Jul 13, 2019 (153)
130	ACPOP	ss3741926163	Jul 13, 2019 (153)
131	ILLUMINA	ss3744148518	Jul 13, 2019 (153)
132	ILLUMINA	ss3744440998	Jul 13, 2019 (153)
133	ILLUMINA	ss3744968837	Jul 13, 2019 (153)
134	ILLUMINA	ss3744968838	Jul 13, 2019 (153)
135	EVA	ss3754523562	Jul 13, 2019 (153)
136	PAGE_CC	ss3771918296	Jul 13, 2019 (153)
137	ILLUMINA	ss3772466807	Jul 13, 2019 (153)
138	ILLUMINA	ss3772466808	Jul 13, 2019 (153)
139	PACBIO	ss3788166568	Jul 13, 2019 (153)
140	PACBIO	ss3793132209	Jul 13, 2019 (153)
141	PACBIO	ss3798017888	Jul 13, 2019 (153)
142	KHV_HUMAN_GENOMES	ss3819797828	Jul 13, 2019 (153)
143	EVA	ss3834810862	Apr 27, 2020 (154)
144	EVA	ss3841014957	Apr 27, 2020 (154)
145	EVA	ss3846509781	Apr 27, 2020 (154)
146	HGDP	ss3847561064	Apr 27, 2020 (154)
147	SGDP_PRJ	ss3885474503	Apr 27, 2020 (154)
148	KRGDB	ss3935086125	Apr 27, 2020 (154)
149	KOGIC	ss3978530868	Apr 27, 2020 (154)
150	EVA	ss3984721257	Apr 26, 2021 (155)
151	EVA	ss3984721258	Apr 26, 2021 (155)
152	EVA	ss3985785158	Apr 26, 2021 (155)
153	TOPMED	ss5031436076	Apr 26, 2021 (155)
154	TOMMO_GENOMICS	ss5221779987	Apr 26, 2021 (155)
155	1000G_HIGH_COVERAGE	ss5302642717	Oct 17, 2022 (156)
156	EVA	ss5315879192	Oct 17, 2022 (156)
157	EVA	ss5426767715	Oct 17, 2022 (156)
158	HUGCELL_USP	ss5495783986	Oct 17, 2022 (156)
159	EVA	ss5511739677	Oct 17, 2022 (156)
160	1000G_HIGH_COVERAGE	ss5606094161	Oct 17, 2022 (156)
161	SANFORD_IMAGENETICS	ss5624394327	Oct 17, 2022 (156)
162	SANFORD_IMAGENETICS	ss5659848247	Oct 17, 2022 (156)
163	TOMMO_GENOMICS	ss5777458958	Oct 17, 2022 (156)
164	EVA	ss5799972605	Oct 17, 2022 (156)
165	YY_MCH	ss5816391781	Oct 17, 2022 (156)
166	EVA	ss5833806528	Oct 17, 2022 (156)
167	EVA	ss5847472817	Oct 17, 2022 (156)
168	EVA	ss5851765662	Oct 17, 2022 (156)
169	EVA	ss5913453767	Oct 17, 2022 (156)
170	EVA	ss5951255417	Oct 17, 2022 (156)
171	EVA	ss5979502965	Oct 17, 2022 (156)
172	1000Genomes	NC_000017.10 - 18753870	Oct 12, 2018 (152)
173	1000Genomes_30x	NC_000017.11 - 18850557	Oct 17, 2022 (156)
174	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 18753870	Oct 12, 2018 (152)
175	Genetic variation in the Estonian population	NC_000017.10 - 18753870	Oct 12, 2018 (152)
176	The Danish reference pan genome	NC_000017.10 - 18753870	Apr 27, 2020 (154)
177	gnomAD - Genomes	NC_000017.11 - 18850557	Apr 26, 2021 (155)
178	Genome of the Netherlands Release 5	NC_000017.10 - 18753870	Apr 27, 2020 (154)
179	HGDP-CEPH-db Supplement 1	NC_000017.9 - 18694595	Apr 27, 2020 (154)
180	HapMap	NC_000017.11 - 18850557	Apr 27, 2020 (154)
181	KOREAN population from KRGDB	NC_000017.10 - 18753870	Apr 27, 2020 (154)
182	Korean Genome Project	NC_000017.11 - 18850557	Apr 27, 2020 (154)
183	Northern Sweden	NC_000017.10 - 18753870	Jul 13, 2019 (153)
184	The PAGE Study	NC_000017.11 - 18850557	Jul 13, 2019 (153)
185	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 18753870	Apr 26, 2021 (155)
186	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 270801 (NC_000017.10:18753869:C:T 709/792) Row 270802 (NC_000017.10:18753869:C:T 709/792)	-	Apr 26, 2021 (155)
187	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 270801 (NC_000017.10:18753869:C:T 709/792) Row 270802 (NC_000017.10:18753869:C:T 709/792)	-	Apr 26, 2021 (155)
188	Qatari	NC_000017.10 - 18753870	Apr 27, 2020 (154)
189	SGDP_PRJ	NC_000017.10 - 18753870	Apr 27, 2020 (154)
190	Siberian	NC_000017.10 - 18753870	Apr 27, 2020 (154)
191	8.3KJPN	NC_000017.10 - 18753870	Apr 26, 2021 (155)
192	14KJPN	NC_000017.11 - 18850557	Oct 17, 2022 (156)
193	TopMed	NC_000017.11 - 18850557	Apr 26, 2021 (155)
194	UK 10K study - Twins	NC_000017.10 - 18753870	Oct 12, 2018 (152)
195	A Vietnamese Genetic Variation Database	NC_000017.10 - 18753870	Jul 13, 2019 (153)
196	ALFA	NC_000017.11 - 18850557	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)
rs17675830	Mar 11, 2006 (126)
rs56659955	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
42263519, ss3935086125	NC_000017.10:18753869:C:G	NC_000017.11:18850556:C:G	(self)
5392497505	NC_000017.11:18850556:C:G	NC_000017.11:18850556:C:G	(self)
238956, ss77754584, ss78694692, ss85836317, ss86069516, ss90553502, ss109689467, ss113378022, ss118019027, ss169258088, ss171256417, ss202314218, ss207808891, ss255535128, ss282715633, ss287157885, ss292025788, ss481102793, ss825533300, ss1697026968, ss1713574718, ss3639087467, ss3639550502, ss3643132406, ss3847561064	NC_000017.9:18694594:C:T	NC_000017.11:18850556:C:T	(self)
71367535, 39574734, 27989110, 4318178, 17643676, 42263519, 15211028, 1011085, 18480958, 37491483, 9973558, 79749294, 39574734, 8766737, ss227493633, ss237204423, ss243511639, ss481124796, ss482115541, ss485346472, ss491518811, ss537294253, ss565205244, ss660998186, ss779044330, ss780685465, ss783118972, ss783358955, ss784075781, ss832377725, ss833017304, ss834507213, ss992985668, ss1080977760, ss1358144161, ss1427996404, ss1578114268, ss1635405403, ss1678399436, ss1752217869, ss1752217870, ss1808732055, ss1917915784, ss1936439036, ss1946434899, ss1946434902, ss1959731478, ss1959731479, ss1968365803, ss2029004799, ss2094800964, ss2095071745, ss2157457204, ss2628996769, ss2633383556, ss2633383557, ss2633383558, ss2702006969, ss2710846036, ss2948376795, ss2985088907, ss2985726852, ss3015299779, ss3021762904, ss3021762905, ss3351681604, ss3625706588, ss3627641224, ss3627641225, ss3631365585, ss3633137833, ss3633845090, ss3634668516, ss3634668517, ss3635532958, ss3636358439, ss3637284474, ss3638153395, ss3640375831, ss3640375832, ss3641078459, ss3641373914, ss3644683820, ss3644683821, ss3652176218, ss3652176219, ss3653861512, ss3682250862, ss3741926163, ss3744148518, ss3744440998, ss3744968837, ss3744968838, ss3754523562, ss3772466807, ss3772466808, ss3788166568, ss3793132209, ss3798017888, ss3834810862, ss3841014957, ss3885474503, ss3935086125, ss3984721257, ss3984721258, ss3985785158, ss5221779987, ss5315879192, ss5426767715, ss5511739677, ss5624394327, ss5659848247, ss5799972605, ss5833806528, ss5847472817, ss5951255417, ss5979502965	NC_000017.10:18753869:C:T	NC_000017.11:18850556:C:T	(self)
93620096, 503165723, 1469167, 34908869, 1139765, 111296062, 246981738, 5392497505, ss2215943920, ss3028322382, ss3650617346, ss3700203744, ss3725609269, ss3771918296, ss3819797828, ss3846509781, ss3978530868, ss5031436076, ss5302642717, ss5495783986, ss5606094161, ss5777458958, ss5816391781, ss5851765662, ss5913453767	NC_000017.11:18850556:C:T	NC_000017.11:18850556:C:T	(self)
ss12384593	NT_010718.13:17593006:C:T	NC_000017.11:18850556:C:T	(self)
ss14282765, ss19357456, ss20032200, ss21397279	NT_010718.14:17594875:C:T	NC_000017.11:18850556:C:T	(self)
ss6809055, ss24589437, ss44022013, ss66588985, ss67399588, ss67769517, ss70836506, ss71419815, ss74953990, ss79202782, ss84400283, ss96584197, ss103336199, ss122432646, ss132570907, ss137005447, ss154329438, ss157898494, ss159505964, ss160728631, ss171979854, ss173876899	NT_010718.16:18357243:C:T	NC_000017.11:18850556:C:T	(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 rs4924935

PMID	Title	Author	Year	Journal
20686608	Genome-wide association study of pancreatic cancer in Japanese population.	Low SK et al.	2010	PloS one
26304507	Association of gastrointestinal gland cancer susceptibility loci with esophageal carcinoma among the Chinese Han population: a case-control study.	Wang J et al.	2016	Tumour biology

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

rs4924935