Name: rs7804356
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.

rs7804356

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:26852046 (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=0.215607 (57069/264690, TOPMED)
C=0.230957 (52674/228068, ALFA)
C=0.214836 (30071/139972, GnomAD) (+ 22 more)
C=0.18738 (14747/78700, PAGE_STUDY)
C=0.09994 (2824/28258, 14KJPN)
C=0.10246 (1717/16758, 8.3KJPN)
C=0.1790 (1146/6404, 1000G_30x)
C=0.1783 (893/5008, 1000G)
C=0.1665 (746/4480, Estonian)
C=0.2460 (948/3854, ALSPAC)
C=0.2549 (945/3708, TWINSUK)
C=0.0989 (289/2922, KOREAN)
C=0.1771 (369/2084, HGDP_Stanford)
C=0.1615 (305/1888, HapMap)
C=0.1053 (193/1832, Korea1K)
C=0.240 (240/998, GoNL)
C=0.097 (76/786, PRJEB37584)
C=0.198 (119/600, NorthernSweden)
C=0.338 (73/216, Qatari)
C=0.098 (21/214, Vietnamese)
T=0.440 (80/182, SGDP_PRJ)
C=0.25 (10/40, GENOME_DK)
T=0.50 (7/14, Siberian)
C=0.50 (7/14, Siberian)
C=0.0 (0/6, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SKAP2 : Intron Variant
LOC124901606 : Intron Variant
Publications: 12 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	228284	T=0.768990	C=0.231010	0.593568	0.055589	0.350844	10
European	Sub	197570	T=0.761497	C=0.238503	0.580989	0.057995	0.361016	2
African	Sub	5932	T=0.8142	C=0.1858	0.669252	0.040796	0.289953	3
African Others	Sub	224	T=0.835	C=0.165	0.6875	0.017857	0.294643	0
African American	Sub	5708	T=0.8134	C=0.1866	0.668535	0.041696	0.289769	4
Asian	Sub	6368	T=0.9075	C=0.0925	0.823492	0.00848	0.168028	0
East Asian	Sub	4534	T=0.9032	C=0.0968	0.816056	0.009704	0.174239	0
Other Asian	Sub	1834	T=0.9182	C=0.0818	0.841876	0.005453	0.152672	0
Latin American 1	Sub	550	T=0.722	C=0.278	0.530909	0.087273	0.381818	0
Latin American 2	Sub	1572	T=0.7831	C=0.2169	0.614504	0.048346	0.33715	0
South Asian	Sub	5138	T=0.7733	C=0.2267	0.601012	0.054496	0.344492	0
Other	Sub	11154	T=0.79693	C=0.20307	0.641564	0.047696	0.310741	5

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	T=0.784393	C=0.215607
Allele Frequency Aggregator	Total	Global	228068	T=0.769043	C=0.230957
Allele Frequency Aggregator	European	Sub	197390	T=0.761543	C=0.238457
Allele Frequency Aggregator	Other	Sub	11132	T=0.79734	C=0.20266
Allele Frequency Aggregator	Asian	Sub	6368	T=0.9075	C=0.0925
Allele Frequency Aggregator	African	Sub	5918	T=0.8140	C=0.1860
Allele Frequency Aggregator	South Asian	Sub	5138	T=0.7733	C=0.2267
Allele Frequency Aggregator	Latin American 2	Sub	1572	T=0.7831	C=0.2169
Allele Frequency Aggregator	Latin American 1	Sub	550	T=0.722	C=0.278
gnomAD - Genomes	Global	Study-wide	139972	T=0.785164	C=0.214836
gnomAD - Genomes	European	Sub	75816	T=0.76985	C=0.23015
gnomAD - Genomes	African	Sub	41928	T=0.81218	C=0.18782
gnomAD - Genomes	American	Sub	13628	T=0.77238	C=0.22762
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.7325	C=0.2675
gnomAD - Genomes	East Asian	Sub	3132	T=0.9096	C=0.0904
gnomAD - Genomes	Other	Sub	2148	T=0.7793	C=0.2207
The PAGE Study	Global	Study-wide	78700	T=0.81262	C=0.18738
The PAGE Study	AfricanAmerican	Sub	32514	T=0.80565	C=0.19435
The PAGE Study	Mexican	Sub	10810	T=0.78927	C=0.21073
The PAGE Study	Asian	Sub	8318	T=0.8932	C=0.1068
The PAGE Study	PuertoRican	Sub	7918	T=0.7714	C=0.2286
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9109	C=0.0891
The PAGE Study	Cuban	Sub	4230	T=0.7818	C=0.2182
The PAGE Study	Dominican	Sub	3828	T=0.7918	C=0.2082
The PAGE Study	CentralAmerican	Sub	2450	T=0.8163	C=0.1837
The PAGE Study	SouthAmerican	Sub	1982	T=0.7977	C=0.2023
The PAGE Study	NativeAmerican	Sub	1260	T=0.7595	C=0.2405
The PAGE Study	SouthAsian	Sub	856	T=0.797	C=0.203
14KJPN	JAPANESE	Study-wide	28258	T=0.90006	C=0.09994
8.3KJPN	JAPANESE	Study-wide	16758	T=0.89754	C=0.10246
1000Genomes_30x	Global	Study-wide	6404	T=0.8210	C=0.1790
1000Genomes_30x	African	Sub	1786	T=0.8331	C=0.1669
1000Genomes_30x	Europe	Sub	1266	T=0.7773	C=0.2227
1000Genomes_30x	South Asian	Sub	1202	T=0.7887	C=0.2113
1000Genomes_30x	East Asian	Sub	1170	T=0.8915	C=0.1085
1000Genomes_30x	American	Sub	980	T=0.811	C=0.189
1000Genomes	Global	Study-wide	5008	T=0.8217	C=0.1783
1000Genomes	African	Sub	1322	T=0.8306	C=0.1694
1000Genomes	East Asian	Sub	1008	T=0.8869	C=0.1131
1000Genomes	Europe	Sub	1006	T=0.7783	C=0.2217
1000Genomes	South Asian	Sub	978	T=0.798	C=0.202
1000Genomes	American	Sub	694	T=0.807	C=0.193
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8335	C=0.1665
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7540	C=0.2460
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7451	C=0.2549
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9011	C=0.0989
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.8229	C=0.1771
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.917	C=0.083
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.761	C=0.239
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.786	C=0.214
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.756	C=0.244
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.810	C=0.190
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.875	C=0.125
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.93	C=0.07
HapMap	Global	Study-wide	1888	T=0.8385	C=0.1615
HapMap	American	Sub	768	T=0.801	C=0.199
HapMap	African	Sub	690	T=0.870	C=0.130
HapMap	Asian	Sub	254	T=0.874	C=0.126
HapMap	Europe	Sub	176	T=0.830	C=0.170
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8947	C=0.1053
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.760	C=0.240
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.903	C=0.097
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.903	C=0.097
Northern Sweden	ACPOP	Study-wide	600	T=0.802	C=0.198
Qatari	Global	Study-wide	216	T=0.662	C=0.338
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.902	C=0.098
SGDP_PRJ	Global	Study-wide	182	T=0.440	C=0.560
The Danish reference pan genome	Danish	Study-wide	40	T=0.75	C=0.25
Siberian	Global	Study-wide	14	T=0.50	C=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	6	T=1.0	C=0.0

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 7	NC_000007.14:g.26852046T>C
GRCh37.p13 chr 7	NC_000007.13:g.26891665T>C

Gene: SKAP2, src kinase associated phosphoprotein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SKAP2 transcript variant 2	NM_001303468.2:c.-318+209… NM_001303468.2:c.-318+2091A>G	N/A	Intron Variant
SKAP2 transcript variant 1	NM_003930.5:c.199+2091A>G	N/A	Intron Variant
SKAP2 transcript variant X1	XM_017012771.3:c.199+2091… XM_017012771.3:c.199+2091A>G	N/A	Intron Variant
SKAP2 transcript variant X2	XM_047421010.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124901606, uncharacterized LOC124901606 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124901606 transcript	XR_007060265.1:n.	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 7	NC_000007.14:g.26852046=	NC_000007.14:g.26852046T>C
GRCh37.p13 chr 7	NC_000007.13:g.26891665=	NC_000007.13:g.26891665T>C
SKAP2 transcript variant 2	NM_001303468.2:c.-318+2091=	NM_001303468.2:c.-318+2091A>G
SKAP2 transcript	NM_003930.3:c.199+2091=	NM_003930.3:c.199+2091A>G
SKAP2 transcript variant 1	NM_003930.5:c.199+2091=	NM_003930.5:c.199+2091A>G
SKAP2 transcript variant X1	XM_005249901.1:c.199+2091=	XM_005249901.1:c.199+2091A>G
SKAP2 transcript variant X2	XM_005249902.1:c.154+2091=	XM_005249902.1:c.154+2091A>G
SKAP2 transcript variant X3	XM_005249903.1:c.-318+2091=	XM_005249903.1:c.-318+2091A>G
SKAP2 transcript variant X1	XM_017012771.3:c.199+2091=	XM_017012771.3:c.199+2091A>G

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#.

120 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11894164	Jul 11, 2003 (116)
2	PERLEGEN	ss14872967	Dec 05, 2003 (120)
3	PERLEGEN	ss24434935	Sep 20, 2004 (123)
4	AFFY	ss65968979	Dec 01, 2006 (127)
5	ILLUMINA	ss66692479	Dec 01, 2006 (127)
6	ILLUMINA	ss67833154	Dec 01, 2006 (127)
7	ILLUMINA	ss67992727	Dec 01, 2006 (127)
8	ILLUMINA	ss70951094	May 25, 2008 (130)
9	ILLUMINA	ss71557284	May 17, 2007 (127)
10	ILLUMINA	ss75595079	Dec 07, 2007 (129)
11	ILLUMINA	ss79270677	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss84728981	Dec 15, 2007 (130)
13	1000GENOMES	ss111715758	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss115995133	Feb 14, 2009 (130)
15	ILLUMINA	ss122838338	Dec 01, 2009 (131)
16	ILLUMINA	ss154448638	Dec 01, 2009 (131)
17	ILLUMINA	ss159623372	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss166316426	Jul 04, 2010 (132)
19	ILLUMINA	ss172350806	Jul 04, 2010 (132)
20	ILLUMINA	ss174558010	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss208110718	Jul 04, 2010 (132)
22	1000GENOMES	ss222976827	Jul 14, 2010 (132)
23	1000GENOMES	ss233900643	Jul 15, 2010 (132)
24	1000GENOMES	ss240871007	Jul 15, 2010 (132)
25	BL	ss254138611	May 09, 2011 (134)
26	GMI	ss279234842	May 04, 2012 (137)
27	EXOME_CHIP	ss491397653	May 04, 2012 (137)
28	ILLUMINA	ss537516370	Sep 08, 2015 (146)
29	TISHKOFF	ss559885207	Apr 25, 2013 (138)
30	SSMP	ss654238935	Apr 25, 2013 (138)
31	ILLUMINA	ss780686834	Sep 08, 2015 (146)
32	ILLUMINA	ss783360370	Sep 08, 2015 (146)
33	ILLUMINA	ss825601195	Apr 01, 2015 (144)
34	ILLUMINA	ss833134279	Jul 13, 2019 (153)
35	EVA-GONL	ss984079717	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1074463062	Aug 21, 2014 (142)
37	1000GENOMES	ss1324401777	Aug 21, 2014 (142)
38	DDI	ss1431065546	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1582122955	Apr 01, 2015 (144)
40	EVA_DECODE	ss1593649279	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1617825431	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1660819464	Apr 01, 2015 (144)
43	EVA_SVP	ss1712941246	Apr 01, 2015 (144)
44	ILLUMINA	ss1752680310	Sep 08, 2015 (146)
45	HAMMER_LAB	ss1804923510	Sep 08, 2015 (146)
46	ILLUMINA	ss1917815690	Feb 12, 2016 (147)
47	WEILL_CORNELL_DGM	ss1927323646	Feb 12, 2016 (147)
48	ILLUMINA	ss1946204812	Feb 12, 2016 (147)
49	ILLUMINA	ss1958997718	Feb 12, 2016 (147)
50	GENOMED	ss1970655291	Jul 19, 2016 (147)
51	JJLAB	ss2024340266	Sep 14, 2016 (149)
52	ILLUMINA	ss2094971774	Dec 20, 2016 (150)
53	ILLUMINA	ss2095196362	Dec 20, 2016 (150)
54	ILLUMINA	ss2095196363	Dec 20, 2016 (150)
55	USC_VALOUEV	ss2152535981	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2292642839	Dec 20, 2016 (150)
57	SYSTEMSBIOZJU	ss2626658715	Nov 08, 2017 (151)
58	GRF	ss2708193309	Nov 08, 2017 (151)
59	GNOMAD	ss2851086170	Nov 08, 2017 (151)
60	AFFY	ss2985402579	Nov 08, 2017 (151)
61	AFFY	ss2986034244	Nov 08, 2017 (151)
62	SWEGEN	ss3000816776	Nov 08, 2017 (151)
63	ILLUMINA	ss3022719463	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3025964531	Nov 08, 2017 (151)
65	CSHL	ss3347495208	Nov 08, 2017 (151)
66	ILLUMINA	ss3629777858	Oct 12, 2018 (152)
67	ILLUMINA	ss3629777859	Oct 12, 2018 (152)
68	ILLUMINA	ss3635113546	Oct 12, 2018 (152)
69	ILLUMINA	ss3638687337	Oct 12, 2018 (152)
70	ILLUMINA	ss3639346141	Oct 12, 2018 (152)
71	ILLUMINA	ss3639700746	Oct 12, 2018 (152)
72	ILLUMINA	ss3640820842	Oct 12, 2018 (152)
73	ILLUMINA	ss3643624200	Oct 12, 2018 (152)
74	ILLUMINA	ss3644937921	Oct 12, 2018 (152)
75	ILLUMINA	ss3653248312	Oct 12, 2018 (152)
76	ILLUMINA	ss3653248313	Oct 12, 2018 (152)
77	ILLUMINA	ss3653248314	Oct 12, 2018 (152)
78	ILLUMINA	ss3654163193	Oct 12, 2018 (152)
79	EGCUT_WGS	ss3668746781	Jul 13, 2019 (153)
80	EVA_DECODE	ss3719332211	Jul 13, 2019 (153)
81	ILLUMINA	ss3726430607	Jul 13, 2019 (153)
82	ACPOP	ss3734464623	Jul 13, 2019 (153)
83	ILLUMINA	ss3744566431	Jul 13, 2019 (153)
84	ILLUMINA	ss3745413492	Jul 13, 2019 (153)
85	EVA	ss3766334545	Jul 13, 2019 (153)
86	PAGE_CC	ss3771359318	Jul 13, 2019 (153)
87	ILLUMINA	ss3772906606	Jul 13, 2019 (153)
88	PACBIO	ss3785764525	Jul 13, 2019 (153)
89	PACBIO	ss3791074408	Jul 13, 2019 (153)
90	PACBIO	ss3795954171	Jul 13, 2019 (153)
91	KHV_HUMAN_GENOMES	ss3809501432	Jul 13, 2019 (153)
92	EVA	ss3830477785	Apr 26, 2020 (154)
93	EVA	ss3838726409	Apr 26, 2020 (154)
94	EVA	ss3844177767	Apr 26, 2020 (154)
95	HGDP	ss3847870604	Apr 26, 2020 (154)
96	SGDP_PRJ	ss3866882836	Apr 26, 2020 (154)
97	KRGDB	ss3913923594	Apr 26, 2020 (154)
98	KOGIC	ss3961105123	Apr 26, 2020 (154)
99	EVA	ss3984585433	Apr 26, 2021 (155)
100	EVA	ss3985284959	Apr 26, 2021 (155)
101	EVA	ss4017326945	Apr 26, 2021 (155)
102	TOPMED	ss4739665604	Apr 26, 2021 (155)
103	TOMMO_GENOMICS	ss5182331835	Apr 26, 2021 (155)
104	EVA	ss5237417738	Apr 26, 2021 (155)
105	1000G_HIGH_COVERAGE	ss5272241060	Oct 14, 2022 (156)
106	EVA	ss5315234575	Oct 14, 2022 (156)
107	EVA	ss5372398136	Oct 14, 2022 (156)
108	HUGCELL_USP	ss5469485291	Oct 14, 2022 (156)
109	1000G_HIGH_COVERAGE	ss5560090137	Oct 14, 2022 (156)
110	SANFORD_IMAGENETICS	ss5624658133	Oct 14, 2022 (156)
111	SANFORD_IMAGENETICS	ss5642583275	Oct 14, 2022 (156)
112	TOMMO_GENOMICS	ss5721932096	Oct 14, 2022 (156)
113	YY_MCH	ss5808440065	Oct 14, 2022 (156)
114	EVA	ss5822570422	Oct 14, 2022 (156)
115	EVA	ss5847314813	Oct 14, 2022 (156)
116	EVA	ss5848132291	Oct 14, 2022 (156)
117	EVA	ss5855815748	Oct 14, 2022 (156)
118	EVA	ss5858180061	Oct 14, 2022 (156)
119	EVA	ss5971786699	Oct 14, 2022 (156)
120	EVA	ss5979820656	Oct 14, 2022 (156)
121	1000Genomes	NC_000007.13 - 26891665	Oct 12, 2018 (152)
122	1000Genomes_30x	NC_000007.14 - 26852046	Oct 14, 2022 (156)
123	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 26891665	Oct 12, 2018 (152)
124	Genetic variation in the Estonian population	NC_000007.13 - 26891665	Oct 12, 2018 (152)
125	The Danish reference pan genome	NC_000007.13 - 26891665	Apr 26, 2020 (154)
126	gnomAD - Genomes	NC_000007.14 - 26852046	Apr 26, 2021 (155)
127	Genome of the Netherlands Release 5	NC_000007.13 - 26891665	Apr 26, 2020 (154)
128	HGDP-CEPH-db Supplement 1	NC_000007.12 - 26858190	Apr 26, 2020 (154)
129	HapMap	NC_000007.14 - 26852046	Apr 26, 2020 (154)
130	KOREAN population from KRGDB	NC_000007.13 - 26891665	Apr 26, 2020 (154)
131	Korean Genome Project	NC_000007.14 - 26852046	Apr 26, 2020 (154)
132	Northern Sweden	NC_000007.13 - 26891665	Jul 13, 2019 (153)
133	The PAGE Study	NC_000007.14 - 26852046	Jul 13, 2019 (153)
134	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 26891665	Apr 26, 2021 (155)
135	CNV burdens in cranial meningiomas	NC_000007.13 - 26891665	Apr 26, 2021 (155)
136	Qatari	NC_000007.13 - 26891665	Apr 26, 2020 (154)
137	SGDP_PRJ	NC_000007.13 - 26891665	Apr 26, 2020 (154)
138	Siberian	NC_000007.13 - 26891665	Apr 26, 2020 (154)
139	8.3KJPN	NC_000007.13 - 26891665	Apr 26, 2021 (155)
140	14KJPN	NC_000007.14 - 26852046	Oct 14, 2022 (156)
141	TopMed	NC_000007.14 - 26852046	Apr 26, 2021 (155)
142	UK 10K study - Twins	NC_000007.13 - 26891665	Oct 12, 2018 (152)
143	A Vietnamese Genetic Variation Database	NC_000007.13 - 26891665	Jul 13, 2019 (153)
144	ALFA	NC_000007.14 - 26852046	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)
rs10486482	Feb 27, 2004 (120)
rs17376143	Oct 08, 2004 (123)
rs60290899	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639346141, ss3639700746	NC_000007.11:26664904:T:C	NC_000007.14:26852045:T:C	(self)
548496, ss111715758, ss115995133, ss166316426, ss208110718, ss254138611, ss279234842, ss825601195, ss1593649279, ss1712941246, ss2094971774, ss3643624200, ss3847870604	NC_000007.12:26858189:T:C	NC_000007.14:26852045:T:C	(self)
36345730, 20264086, 14485029, 8287894, 9035067, 21100988, 7749488, 510886, 134854, 9365576, 18899816, 5052335, 40301142, 20264086, 4515361, ss222976827, ss233900643, ss240871007, ss491397653, ss537516370, ss559885207, ss654238935, ss780686834, ss783360370, ss833134279, ss984079717, ss1074463062, ss1324401777, ss1431065546, ss1582122955, ss1617825431, ss1660819464, ss1752680310, ss1804923510, ss1917815690, ss1927323646, ss1946204812, ss1958997718, ss1970655291, ss2024340266, ss2095196362, ss2095196363, ss2152535981, ss2626658715, ss2708193309, ss2851086170, ss2985402579, ss2986034244, ss3000816776, ss3022719463, ss3347495208, ss3629777858, ss3629777859, ss3635113546, ss3638687337, ss3640820842, ss3644937921, ss3653248312, ss3653248313, ss3653248314, ss3654163193, ss3668746781, ss3734464623, ss3744566431, ss3745413492, ss3766334545, ss3772906606, ss3785764525, ss3791074408, ss3795954171, ss3830477785, ss3838726409, ss3866882836, ss3913923594, ss3984585433, ss3985284959, ss4017326945, ss5182331835, ss5237417738, ss5315234575, ss5372398136, ss5624658133, ss5642583275, ss5822570422, ss5847314813, ss5848132291, ss5971786699, ss5979820656	NC_000007.13:26891664:T:C	NC_000007.14:26852045:T:C	(self)
47616072, 256272180, 3362354, 17483124, 580787, 55769200, 577043163, 10021799635, ss2292642839, ss3025964531, ss3719332211, ss3726430607, ss3771359318, ss3809501432, ss3844177767, ss3961105123, ss4739665604, ss5272241060, ss5469485291, ss5560090137, ss5721932096, ss5808440065, ss5855815748, ss5858180061	NC_000007.14:26852045:T:C	NC_000007.14:26852045:T:C	(self)
ss11894164	NT_007819.13:26185272:T:C	NC_000007.14:26852045:T:C	(self)
ss14872967, ss24434935, ss65968979, ss66692479, ss67833154, ss67992727, ss70951094, ss71557284, ss75595079, ss79270677, ss84728981, ss122838338, ss154448638, ss159623372, ss172350806, ss174558010	NT_007819.17:26881664:T:C	NC_000007.14:26852045:T:C	(self)

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

12 citations for rs7804356

PMID	Title	Author	Year	Journal
19430480	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Barrett JC et al.	2009	Nature genetics
20587799	Genetics of type 1 diabetes: what's next?	Pociot F et al.	2010	Diabetes
20805105	Synthetic associations in the context of genome-wide association scan signals.	Orozco G et al.	2010	Human molecular genetics
21270831	Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.	Reddy MV et al.	2011	Genes and immunity
21852963	Pervasive sharing of genetic effects in autoimmune disease.	Cotsapas C et al.	2011	PLoS genetics
21980299	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Bradfield JP et al.	2011	PLoS genetics
22278338	Confirmation of novel type 1 diabetes risk loci in families.	Cooper JD et al.	2012	Diabetologia
24367383	Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young.	Frederiksen BN et al.	2013	Clinical & developmental immunology
25904084	Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients.	Kiani AK et al.	2015	Immunogenetics
26904692	Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.	Brorsson CA et al.	2016	Journal of diabetes research
28374850	Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.	Ellinghaus E et al.	2017	Scientific reports
31455420	Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population.	Aslam MM et al.	2019	BMC research notes

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7804356