Name: rs2998367
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.

rs2998367

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:75461797 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.299951 (79394/264690, TOPMED)
T=0.353567 (86189/243770, ALFA)
T=0.45470 (12849/28258, 14KJPN) (+ 17 more)
T=0.45263 (7586/16760, 8.3KJPN)
T=0.2914 (1866/6404, 1000G_30x)
T=0.2933 (1469/5008, 1000G)
T=0.3761 (1685/4480, Estonian)
T=0.3326 (1282/3854, ALSPAC)
T=0.3331 (1235/3708, TWINSUK)
T=0.4628 (1356/2930, KOREAN)
T=0.2385 (444/1862, HapMap)
T=0.4667 (855/1832, Korea1K)
T=0.360 (359/998, GoNL)
T=0.388 (301/776, PRJEB37584)
T=0.385 (231/600, NorthernSweden)
T=0.271 (121/446, SGDP_PRJ)
T=0.282 (61/216, Qatari)
T=0.449 (96/214, Vietnamese)
T=0.33 (13/40, GENOME_DK)
T=0.38 (12/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FILIP1 : Intron Variant
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	248806	T=0.352218	A=0.000000, C=0.647782
European	Sub	218890	T=0.350418	A=0.000000, C=0.649582
African	Sub	7000	T=0.1489	A=0.0000, C=0.8511
African Others	Sub	250	T=0.112	A=0.000, C=0.888
African American	Sub	6750	T=0.1502	A=0.0000, C=0.8498
Asian	Sub	3770	T=0.4623	A=0.0000, C=0.5377
East Asian	Sub	3026	T=0.4518	A=0.0000, C=0.5482
Other Asian	Sub	744	T=0.505	A=0.000, C=0.495
Latin American 1	Sub	1038	T=0.3276	A=0.0000, C=0.6724
Latin American 2	Sub	8320	T=0.5209	A=0.0000, C=0.4791
South Asian	Sub	292	T=0.295	A=0.000, C=0.705
Other	Sub	9496	T=0.3566	A=0.0000, C=0.6434

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=0.299951	C=0.700049
Allele Frequency Aggregator	Total	Global	243770	T=0.353567	A=0.000000, C=0.646433
Allele Frequency Aggregator	European	Sub	215796	T=0.350627	A=0.000000, C=0.649373
Allele Frequency Aggregator	Other	Sub	8696	T=0.3595	A=0.0000, C=0.6405
Allele Frequency Aggregator	Latin American 2	Sub	8320	T=0.5209	A=0.0000, C=0.4791
Allele Frequency Aggregator	African	Sub	5858	T=0.1530	A=0.0000, C=0.8470
Allele Frequency Aggregator	Asian	Sub	3770	T=0.4623	A=0.0000, C=0.5377
Allele Frequency Aggregator	Latin American 1	Sub	1038	T=0.3276	A=0.0000, C=0.6724
Allele Frequency Aggregator	South Asian	Sub	292	T=0.295	A=0.000, C=0.705
14KJPN	JAPANESE	Study-wide	28258	T=0.45470	C=0.54530
8.3KJPN	JAPANESE	Study-wide	16760	T=0.45263	C=0.54737
1000Genomes_30x	Global	Study-wide	6404	T=0.2914	C=0.7086
1000Genomes_30x	African	Sub	1786	T=0.0739	C=0.9261
1000Genomes_30x	Europe	Sub	1266	T=0.3428	C=0.6572
1000Genomes_30x	South Asian	Sub	1202	T=0.2779	C=0.7221
1000Genomes_30x	East Asian	Sub	1170	T=0.4368	C=0.5632
1000Genomes_30x	American	Sub	980	T=0.464	C=0.536
1000Genomes	Global	Study-wide	5008	T=0.2933	C=0.7067
1000Genomes	African	Sub	1322	T=0.0756	C=0.9244
1000Genomes	East Asian	Sub	1008	T=0.4246	C=0.5754
1000Genomes	Europe	Sub	1006	T=0.3459	C=0.6541
1000Genomes	South Asian	Sub	978	T=0.279	C=0.721
1000Genomes	American	Sub	694	T=0.461	C=0.539
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3761	C=0.6239
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3326	C=0.6674
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3331	C=0.6669
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4628	C=0.5372, G=0.0000
HapMap	Global	Study-wide	1862	T=0.2385	C=0.7615
HapMap	American	Sub	762	T=0.318	C=0.682
HapMap	African	Sub	684	T=0.069	C=0.931
HapMap	Asian	Sub	246	T=0.398	C=0.602
HapMap	Europe	Sub	170	T=0.335	C=0.665
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4667	C=0.5333
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.360	C=0.640
CNV burdens in cranial meningiomas	Global	Study-wide	776	T=0.388	C=0.612
CNV burdens in cranial meningiomas	CRM	Sub	776	T=0.388	C=0.612
Northern Sweden	ACPOP	Study-wide	600	T=0.385	C=0.615
SGDP_PRJ	Global	Study-wide	446	T=0.271	C=0.729
Qatari	Global	Study-wide	216	T=0.282	C=0.718
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.449	C=0.551
The Danish reference pan genome	Danish	Study-wide	40	T=0.33	C=0.68
Siberian	Global	Study-wide	32	T=0.38	C=0.62

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 6	NC_000006.12:g.75461797T>A
GRCh38.p14 chr 6	NC_000006.12:g.75461797T>C
GRCh38.p14 chr 6	NC_000006.12:g.75461797T>G
GRCh37.p13 chr 6	NC_000006.11:g.76171513T>A
GRCh37.p13 chr 6	NC_000006.11:g.76171513T>C
GRCh37.p13 chr 6	NC_000006.11:g.76171513T>G
FILIP1 RefSeqGene	NG_051931.1:g.37118A>T
FILIP1 RefSeqGene	NG_051931.1:g.37118A>G
FILIP1 RefSeqGene	NG_051931.1:g.37118A>C

Gene: FILIP1, filamin A interacting protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FILIP1 transcript variant 1	NM_001289987.3:c.-163-765… NM_001289987.3:c.-163-7650A>T	N/A	Intron Variant
FILIP1 transcript variant 4	NM_001300866.3:c.-7+31617… NM_001300866.3:c.-7+31617A>T	N/A	Intron Variant
FILIP1 transcript variant 2	NM_015687.5:c.-7+31617A>T	N/A	Intron Variant
FILIP1 transcript variant 3	NR_110608.3:n.	N/A	Intron Variant
FILIP1 transcript variant X2	XM_005248713.5:c.-7+31617… XM_005248713.5:c.-7+31617A>T	N/A	Intron Variant
FILIP1 transcript variant X3	XM_005248715.6:c.-7+31617… XM_005248715.6:c.-7+31617A>T	N/A	Intron Variant
FILIP1 transcript variant X1	XM_047418647.1:c.-129-765… XM_047418647.1:c.-129-7650A>T	N/A	Intron Variant
FILIP1 transcript variant X4	XM_011535756.3:c.	N/A	Genic Upstream Transcript Variant
FILIP1 transcript variant X5	XM_047418648.1:c.	N/A	Genic Upstream Transcript 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=	A	C	G
GRCh38.p14 chr 6	NC_000006.12:g.75461797=	NC_000006.12:g.75461797T>A	NC_000006.12:g.75461797T>C	NC_000006.12:g.75461797T>G
GRCh37.p13 chr 6	NC_000006.11:g.76171513=	NC_000006.11:g.76171513T>A	NC_000006.11:g.76171513T>C	NC_000006.11:g.76171513T>G
FILIP1 RefSeqGene	NG_051931.1:g.37118=	NG_051931.1:g.37118A>T	NG_051931.1:g.37118A>G	NG_051931.1:g.37118A>C
FILIP1 transcript variant 1	NM_001289987.3:c.-163-7650=	NM_001289987.3:c.-163-7650A>T	NM_001289987.3:c.-163-7650A>G	NM_001289987.3:c.-163-7650A>C
FILIP1 transcript variant 4	NM_001300866.3:c.-7+31617=	NM_001300866.3:c.-7+31617A>T	NM_001300866.3:c.-7+31617A>G	NM_001300866.3:c.-7+31617A>C
FILIP1 transcript	NM_015687.2:c.-7+31617=	NM_015687.2:c.-7+31617A>T	NM_015687.2:c.-7+31617A>G	NM_015687.2:c.-7+31617A>C
FILIP1 transcript variant 2	NM_015687.5:c.-7+31617=	NM_015687.5:c.-7+31617A>T	NM_015687.5:c.-7+31617A>G	NM_015687.5:c.-7+31617A>C
FILIP1 transcript variant X1	XM_005248713.1:c.-7+31617=	XM_005248713.1:c.-7+31617A>T	XM_005248713.1:c.-7+31617A>G	XM_005248713.1:c.-7+31617A>C
FILIP1 transcript variant X2	XM_005248713.5:c.-7+31617=	XM_005248713.5:c.-7+31617A>T	XM_005248713.5:c.-7+31617A>G	XM_005248713.5:c.-7+31617A>C
FILIP1 transcript variant X2	XM_005248714.1:c.-7+31617=	XM_005248714.1:c.-7+31617A>T	XM_005248714.1:c.-7+31617A>G	XM_005248714.1:c.-7+31617A>C
FILIP1 transcript variant X3	XM_005248715.1:c.-7+31617=	XM_005248715.1:c.-7+31617A>T	XM_005248715.1:c.-7+31617A>G	XM_005248715.1:c.-7+31617A>C
FILIP1 transcript variant X3	XM_005248715.6:c.-7+31617=	XM_005248715.6:c.-7+31617A>T	XM_005248715.6:c.-7+31617A>G	XM_005248715.6:c.-7+31617A>C
FILIP1 transcript variant X1	XM_047418647.1:c.-129-7650=	XM_047418647.1:c.-129-7650A>T	XM_047418647.1:c.-129-7650A>G	XM_047418647.1:c.-129-7650A>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#.

129 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4221574	Nov 05, 2001 (101)
2	SC_SNP	ss12802752	Dec 05, 2003 (119)
3	SSAHASNP	ss22401534	Apr 05, 2004 (121)
4	PERLEGEN	ss24006648	Sep 20, 2004 (123)
5	ABI	ss44774787	Mar 13, 2006 (126)
6	ILLUMINA	ss65718387	Oct 14, 2006 (127)
7	AFFY	ss66288784	Nov 30, 2006 (127)
8	ILLUMINA	ss74910562	Dec 07, 2007 (129)
9	AFFY	ss75951907	Dec 08, 2007 (129)
10	KRIBB_YJKIM	ss81925398	Dec 15, 2007 (130)
11	HGSV	ss84134012	Dec 15, 2007 (130)
12	BCMHGSC_JDW	ss93494519	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss98510460	Feb 05, 2009 (130)
14	BGI	ss104328309	Dec 01, 2009 (131)
15	1000GENOMES	ss110360688	Jan 24, 2009 (130)
16	1000GENOMES	ss114587519	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116551153	Feb 14, 2009 (130)
18	ILLUMINA	ss120243526	Dec 01, 2009 (131)
19	ENSEMBL	ss142879472	Dec 01, 2009 (131)
20	ENSEMBL	ss144063326	Dec 01, 2009 (131)
21	ILLUMINA	ss160605571	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss162514534	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss163754221	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss166893685	Jul 04, 2010 (132)
25	AFFY	ss169586285	Jul 04, 2010 (132)
26	ILLUMINA	ss173549351	Jul 04, 2010 (132)
27	BUSHMAN	ss202035989	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss207756765	Jul 04, 2010 (132)
29	1000GENOMES	ss222477881	Jul 14, 2010 (132)
30	1000GENOMES	ss233540127	Jul 15, 2010 (132)
31	1000GENOMES	ss240582502	Jul 15, 2010 (132)
32	ILLUMINA	ss244257383	Jul 04, 2010 (132)
33	BL	ss254465800	May 09, 2011 (134)
34	GMI	ss278873036	May 04, 2012 (137)
35	GMI	ss285441698	Apr 25, 2013 (138)
36	PJP	ss293638490	May 09, 2011 (134)
37	ILLUMINA	ss480737730	May 04, 2012 (137)
38	ILLUMINA	ss480753556	May 04, 2012 (137)
39	ILLUMINA	ss481636717	Sep 08, 2015 (146)
40	ILLUMINA	ss485163595	May 04, 2012 (137)
41	ILLUMINA	ss537156190	Sep 08, 2015 (146)
42	TISHKOFF	ss559301124	Apr 25, 2013 (138)
43	SSMP	ss653260702	Apr 25, 2013 (138)
44	ILLUMINA	ss778514266	Aug 21, 2014 (142)
45	ILLUMINA	ss783028038	Aug 21, 2014 (142)
46	ILLUMINA	ss783987815	Aug 21, 2014 (142)
47	ILLUMINA	ss832285631	Apr 01, 2015 (144)
48	ILLUMINA	ss833970568	Aug 21, 2014 (142)
49	EVA-GONL	ss983108376	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1073742507	Aug 21, 2014 (142)
51	1000GENOMES	ss1320792173	Aug 21, 2014 (142)
52	DDI	ss1430784530	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1581744059	Apr 01, 2015 (144)
54	EVA_DECODE	ss1592652133	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1615910499	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1658904532	Apr 01, 2015 (144)
57	EVA_SVP	ss1712873908	Apr 01, 2015 (144)
58	ILLUMINA	ss1752647741	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1804510305	Sep 08, 2015 (146)
60	WEILL_CORNELL_DGM	ss1926365337	Feb 12, 2016 (147)
61	ILLUMINA	ss1946183400	Feb 12, 2016 (147)
62	GENOMED	ss1970437841	Jul 19, 2016 (147)
63	JJLAB	ss2023825366	Sep 14, 2016 (149)
64	ILLUMINA	ss2094828015	Dec 20, 2016 (150)
65	ILLUMINA	ss2095184346	Dec 20, 2016 (150)
66	USC_VALOUEV	ss2152017594	Dec 20, 2016 (150)
67	HUMAN_LONGEVITY	ss2285245221	Dec 20, 2016 (150)
68	SYSTEMSBIOZJU	ss2626407116	Nov 08, 2017 (151)
69	ILLUMINA	ss2634469857	Nov 08, 2017 (151)
70	GRF	ss2707628589	Nov 08, 2017 (151)
71	ILLUMINA	ss2711081983	Nov 08, 2017 (151)
72	GNOMAD	ss2840849181	Nov 08, 2017 (151)
73	SWEGEN	ss2999352441	Nov 08, 2017 (151)
74	ILLUMINA	ss3022637932	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3025705549	Nov 08, 2017 (151)
76	CSHL	ss3347056410	Nov 08, 2017 (151)
77	ILLUMINA	ss3625905783	Oct 12, 2018 (152)
78	ILLUMINA	ss3629580114	Oct 12, 2018 (152)
79	ILLUMINA	ss3632385251	Oct 12, 2018 (152)
80	ILLUMINA	ss3633426578	Oct 12, 2018 (152)
81	ILLUMINA	ss3634149686	Oct 12, 2018 (152)
82	ILLUMINA	ss3635074117	Oct 12, 2018 (152)
83	ILLUMINA	ss3635830422	Oct 12, 2018 (152)
84	ILLUMINA	ss3636797625	Oct 12, 2018 (152)
85	ILLUMINA	ss3637583247	Oct 12, 2018 (152)
86	ILLUMINA	ss3638638462	Oct 12, 2018 (152)
87	ILLUMINA	ss3640781417	Oct 12, 2018 (152)
88	ILLUMINA	ss3641197952	Oct 12, 2018 (152)
89	ILLUMINA	ss3641495155	Oct 12, 2018 (152)
90	ILLUMINA	ss3643578937	Oct 12, 2018 (152)
91	ILLUMINA	ss3644916464	Oct 12, 2018 (152)
92	URBANLAB	ss3648389581	Oct 12, 2018 (152)
93	ILLUMINA	ss3653155364	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3667222775	Jul 13, 2019 (153)
95	EVA_DECODE	ss3717542419	Jul 13, 2019 (153)
96	ILLUMINA	ss3726358287	Jul 13, 2019 (153)
97	ACPOP	ss3733656348	Jul 13, 2019 (153)
98	ILLUMINA	ss3744273756	Jul 13, 2019 (153)
99	ILLUMINA	ss3745374043	Jul 13, 2019 (153)
100	EVA	ss3765218242	Jul 13, 2019 (153)
101	ILLUMINA	ss3772867545	Jul 13, 2019 (153)
102	PACBIO	ss3785520966	Jul 13, 2019 (153)
103	PACBIO	ss3790864889	Jul 13, 2019 (153)
104	PACBIO	ss3795743960	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3808367897	Jul 13, 2019 (153)
106	EVA	ss3830010661	Apr 26, 2020 (154)
107	EVA	ss3838485503	Apr 26, 2020 (154)
108	EVA	ss3843932772	Apr 26, 2020 (154)
109	SGDP_PRJ	ss3864929462	Apr 26, 2020 (154)
110	KRGDB	ss3911803259	Apr 26, 2020 (154)
111	KOGIC	ss3959366828	Apr 26, 2020 (154)
112	EVA	ss3984571409	Apr 26, 2021 (155)
113	TOPMED	ss4708757697	Apr 26, 2021 (155)
114	TOMMO_GENOMICS	ss5178251218	Apr 26, 2021 (155)
115	1000G_HIGH_COVERAGE	ss5269040730	Oct 17, 2022 (156)
116	EVA	ss5315166362	Oct 17, 2022 (156)
117	EVA	ss5366660280	Oct 17, 2022 (156)
118	HUGCELL_USP	ss5466621884	Oct 17, 2022 (156)
119	EVA	ss5508563576	Oct 17, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5555276677	Oct 17, 2022 (156)
121	SANFORD_IMAGENETICS	ss5640740012	Oct 17, 2022 (156)
122	TOMMO_GENOMICS	ss5716652492	Oct 17, 2022 (156)
123	EVA	ss5799692971	Oct 17, 2022 (156)
124	YY_MCH	ss5807628521	Oct 17, 2022 (156)
125	EVA	ss5842483936	Oct 17, 2022 (156)
126	EVA	ss5848102700	Oct 17, 2022 (156)
127	EVA	ss5855424340	Oct 17, 2022 (156)
128	EVA	ss5884465187	Oct 17, 2022 (156)
129	EVA	ss5969236181	Oct 17, 2022 (156)
130	1000Genomes	NC_000006.11 - 76171513	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000006.12 - 75461797	Oct 17, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 76171513	Oct 12, 2018 (152)
133	Genetic variation in the Estonian population	NC_000006.11 - 76171513	Oct 12, 2018 (152)
134	The Danish reference pan genome	NC_000006.11 - 76171513	Apr 26, 2020 (154)
135	gnomAD - Genomes Submission ignored due to conflicting rows: Row 230107130 (NC_000006.12:75461796:T:A 4/140152) Row 230107131 (NC_000006.12:75461796:T:C 98527/140114)	-	Apr 26, 2021 (155)
136	gnomAD - Genomes Submission ignored due to conflicting rows: Row 230107130 (NC_000006.12:75461796:T:A 4/140152) Row 230107131 (NC_000006.12:75461796:T:C 98527/140114)	-	Apr 26, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000006.11 - 76171513	Apr 26, 2020 (154)
138	HapMap	NC_000006.12 - 75461797	Apr 26, 2020 (154)
139	KOREAN population from KRGDB	NC_000006.11 - 76171513	Apr 26, 2020 (154)
140	Korean Genome Project	NC_000006.12 - 75461797	Apr 26, 2020 (154)
141	Northern Sweden	NC_000006.11 - 76171513	Jul 13, 2019 (153)
142	CNV burdens in cranial meningiomas	NC_000006.11 - 76171513	Apr 26, 2021 (155)
143	Qatari	NC_000006.11 - 76171513	Apr 26, 2020 (154)
144	SGDP_PRJ	NC_000006.11 - 76171513	Apr 26, 2020 (154)
145	Siberian	NC_000006.11 - 76171513	Apr 26, 2020 (154)
146	8.3KJPN	NC_000006.11 - 76171513	Apr 26, 2021 (155)
147	14KJPN	NC_000006.12 - 75461797	Oct 17, 2022 (156)
148	TopMed	NC_000006.12 - 75461797	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000006.11 - 76171513	Oct 12, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000006.11 - 76171513	Jul 13, 2019 (153)
151	ALFA	NC_000006.12 - 75461797	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)
rs59266138	May 25, 2008 (130)
rs60466220	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6568871048	NC_000006.12:75461796:T:A	NC_000006.12:75461796:T:A	(self)
ss84134012	NC_000006.9:76228232:T:C	NC_000006.12:75461796:T:C	(self)
ss93494519, ss110360688, ss114587519, ss116551153, ss160605571, ss162514534, ss163754221, ss166893685, ss202035989, ss207756765, ss254465800, ss278873036, ss285441698, ss293638490, ss480737730, ss1592652133, ss1712873908, ss3643578937	NC_000006.10:76228232:T:C	NC_000006.12:75461796:T:C	(self)
32604634, 18163788, 12961023, 7908998, 8092768, 18980653, 6941213, 120818, 8407267, 16946442, 4533948, 36220525, 18163788, 4036039, ss222477881, ss233540127, ss240582502, ss480753556, ss481636717, ss485163595, ss537156190, ss559301124, ss653260702, ss778514266, ss783028038, ss783987815, ss832285631, ss833970568, ss983108376, ss1073742507, ss1320792173, ss1430784530, ss1581744059, ss1615910499, ss1658904532, ss1752647741, ss1804510305, ss1926365337, ss1946183400, ss1970437841, ss2023825366, ss2094828015, ss2095184346, ss2152017594, ss2626407116, ss2634469857, ss2707628589, ss2711081983, ss2840849181, ss2999352441, ss3022637932, ss3347056410, ss3625905783, ss3629580114, ss3632385251, ss3633426578, ss3634149686, ss3635074117, ss3635830422, ss3636797625, ss3637583247, ss3638638462, ss3640781417, ss3641197952, ss3641495155, ss3644916464, ss3653155364, ss3667222775, ss3733656348, ss3744273756, ss3745374043, ss3765218242, ss3772867545, ss3785520966, ss3790864889, ss3795743960, ss3830010661, ss3838485503, ss3864929462, ss3911803259, ss3984571409, ss5178251218, ss5315166362, ss5366660280, ss5508563576, ss5640740012, ss5799692971, ss5842483936, ss5848102700, ss5969236181	NC_000006.11:76171512:T:C	NC_000006.12:75461796:T:C	(self)
42802612, 3167065, 15744829, 50489596, 546135255, 6568871048, ss2285245221, ss3025705549, ss3648389581, ss3717542419, ss3726358287, ss3808367897, ss3843932772, ss3959366828, ss4708757697, ss5269040730, ss5466621884, ss5555276677, ss5716652492, ss5807628521, ss5855424340, ss5884465187	NC_000006.12:75461796:T:C	NC_000006.12:75461796:T:C	(self)
ss12802752, ss22401534	NT_007299.12:13991684:T:C	NC_000006.12:75461796:T:C	(self)
ss4221574, ss24006648, ss44774787, ss65718387, ss66288784, ss74910562, ss75951907, ss81925398, ss98510460, ss104328309, ss120243526, ss142879472, ss144063326, ss169586285, ss173549351, ss244257383	NT_007299.13:14291346:T:C	NC_000006.12:75461796:T:C	(self)
18980653, ss3911803259	NC_000006.11:76171512:T:G	NC_000006.12:75461796:T:G	(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 rs2998367

PMID	Title	Author	Year	Journal
18682575	Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study.	De Mars G et al.	2008	Physiological genomics
21179430	Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.	Khan MI et al.	2010	Molecular vision

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

rs2998367