Name: rs7225128
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.

rs7225128

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:58559493 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.155193 (41078/264690, TOPMED)
T=0.156351 (39168/250514, GnomAD_exome)
T=0.207463 (36074/173882, ALFA) (+ 22 more)
T=0.161092 (22580/140168, GnomAD)
T=0.158689 (19262/121382, ExAC)
T=0.00000 (0/28258, 14KJPN)
T=0.00000 (0/16760, 8.3KJPN)
T=0.17577 (2286/13006, GO-ESP)
T=0.1077 (690/6404, 1000G_30x)
T=0.1030 (516/5008, 1000G)
T=0.1533 (687/4480, Estonian)
T=0.2060 (794/3854, ALSPAC)
T=0.2033 (754/3708, TWINSUK)
T=0.0007 (2/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.1066 (184/1726, HapMap)
T=0.206 (206/998, GoNL)
T=0.000 (0/614, Vietnamese)
T=0.228 (137/600, NorthernSweden)
T=0.072 (40/554, SGDP_PRJ)
T=0.258 (138/534, MGP)
T=0.197 (60/304, FINRISK)
T=0.199 (43/216, Qatari)
T=0.05 (3/56, Siberian)
T=0.05 (2/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TEX14 : Missense 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	190202	T=0.204745	C=0.795255
European	Sub	159874	T=0.216546	C=0.783454
African	Sub	12136	T=0.09303	C=0.90697
African Others	Sub	434	T=0.088	C=0.912
African American	Sub	11702	T=0.09323	C=0.90677
Asian	Sub	686	T=0.007	C=0.993
East Asian	Sub	524	T=0.004	C=0.996
Other Asian	Sub	162	T=0.019	C=0.981
Latin American 1	Sub	1044	T=0.1600	C=0.8400
Latin American 2	Sub	2282	T=0.1402	C=0.8598
South Asian	Sub	182	T=0.104	C=0.896
Other	Sub	13998	T=0.19167	C=0.80833

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.155193	C=0.844807
gnomAD - Exomes	Global	Study-wide	250514	T=0.156351	C=0.843649
gnomAD - Exomes	European	Sub	135070	T=0.204042	C=0.795958
gnomAD - Exomes	Asian	Sub	48710	T=0.06613	C=0.93387
gnomAD - Exomes	American	Sub	34340	T=0.10844	C=0.89156
gnomAD - Exomes	African	Sub	16238	T=0.08486	C=0.91514
gnomAD - Exomes	Ashkenazi Jewish	Sub	10048	T=0.21119	C=0.78881
gnomAD - Exomes	Other	Sub	6108	T=0.1904	C=0.8096
Allele Frequency Aggregator	Total	Global	173882	T=0.207463	C=0.792537
Allele Frequency Aggregator	European	Sub	149820	T=0.216593	C=0.783407
Allele Frequency Aggregator	Other	Sub	12566	T=0.19179	C=0.80821
Allele Frequency Aggregator	African	Sub	7302	T=0.0963	C=0.9037
Allele Frequency Aggregator	Latin American 2	Sub	2282	T=0.1402	C=0.8598
Allele Frequency Aggregator	Latin American 1	Sub	1044	T=0.1600	C=0.8400
Allele Frequency Aggregator	Asian	Sub	686	T=0.007	C=0.993
Allele Frequency Aggregator	South Asian	Sub	182	T=0.104	C=0.896
gnomAD - Genomes	Global	Study-wide	140168	T=0.161092	C=0.838908
gnomAD - Genomes	European	Sub	75912	T=0.20396	C=0.79604
gnomAD - Genomes	African	Sub	42006	T=0.09106	C=0.90894
gnomAD - Genomes	American	Sub	13646	T=0.15580	C=0.84420
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2210	C=0.7790
gnomAD - Genomes	East Asian	Sub	3134	T=0.0019	C=0.9981
gnomAD - Genomes	Other	Sub	2148	T=0.1890	C=0.8110
ExAC	Global	Study-wide	121382	T=0.158689	C=0.841311
ExAC	Europe	Sub	73330	T=0.20813	C=0.79187
ExAC	Asian	Sub	25164	T=0.06787	C=0.93213
ExAC	American	Sub	11578	T=0.10114	C=0.89886
ExAC	African	Sub	10402	T=0.09152	C=0.90848
ExAC	Other	Sub	908	T=0.186	C=0.814
14KJPN	JAPANESE	Study-wide	28258	T=0.00000	C=1.00000
8.3KJPN	JAPANESE	Study-wide	16760	T=0.00000	C=1.00000
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.17577	C=0.82423
GO Exome Sequencing Project	European American	Sub	8600	T=0.2150	C=0.7850
GO Exome Sequencing Project	African American	Sub	4406	T=0.0992	C=0.9008
1000Genomes_30x	Global	Study-wide	6404	T=0.1077	C=0.8923
1000Genomes_30x	African	Sub	1786	T=0.0896	C=0.9104
1000Genomes_30x	Europe	Sub	1266	T=0.2322	C=0.7678
1000Genomes_30x	South Asian	Sub	1202	T=0.0882	C=0.9118
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	T=0.133	C=0.867
1000Genomes	Global	Study-wide	5008	T=0.1030	C=0.8970
1000Genomes	African	Sub	1322	T=0.0877	C=0.9123
1000Genomes	East Asian	Sub	1008	T=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	T=0.2266	C=0.7734
1000Genomes	South Asian	Sub	978	T=0.085	C=0.915
1000Genomes	American	Sub	694	T=0.128	C=0.872
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1533	C=0.8467
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2060	C=0.7940
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2033	C=0.7967
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0007	A=0.0000, C=0.9993
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
HapMap	Global	Study-wide	1726	T=0.1066	C=0.8934
HapMap	American	Sub	770	T=0.117	C=0.883
HapMap	African	Sub	692	T=0.072	C=0.928
HapMap	Europe	Sub	176	T=0.250	C=0.750
HapMap	Asian	Sub	88	T=0.00	C=1.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.206	C=0.794
A Vietnamese Genetic Variation Database	Global	Study-wide	614	T=0.000	C=1.000
Northern Sweden	ACPOP	Study-wide	600	T=0.228	C=0.772
SGDP_PRJ	Global	Study-wide	554	T=0.072	C=0.928
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.258	C=0.742
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.197	C=0.803
Qatari	Global	Study-wide	216	T=0.199	C=0.801
Siberian	Global	Study-wide	56	T=0.05	C=0.95
The Danish reference pan genome	Danish	Study-wide	40	T=0.05	C=0.95

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.58559493T>A
GRCh38.p14 chr 17	NC_000017.11:g.58559493T>C
GRCh37.p13 chr 17	NC_000017.10:g.56636854T>A
GRCh37.p13 chr 17	NC_000017.10:g.56636854T>C
TEX14 RefSeqGene	NG_047169.1:g.137587A>T
TEX14 RefSeqGene	NG_047169.1:g.137587A>G

Gene: TEX14, testis expressed 14, intercellular bridge forming factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TEX14 transcript variant 3	NM_001201457.2:c.4365A>T	E [GAA] > D [GAT]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform c	NP_001188386.1:p.Glu1455A… NP_001188386.1:p.Glu1455Asp	E (Glu) > D (Asp)	Missense Variant
TEX14 transcript variant 3	NM_001201457.2:c.4365A>G	E [GAA] > E [GAG]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform c	NP_001188386.1:p.Glu1455=	E (Glu) > E (Glu)	Synonymous Variant
TEX14 transcript variant 1	NM_198393.4:c.4347A>T	E [GAA] > D [GAT]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform a	NP_938207.2:p.Glu1449Asp	E (Glu) > D (Asp)	Missense Variant
TEX14 transcript variant 1	NM_198393.4:c.4347A>G	E [GAA] > E [GAG]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform a	NP_938207.2:p.Glu1449=	E (Glu) > E (Glu)	Synonymous Variant
TEX14 transcript variant 2	NM_031272.5:c.4227A>T	E [GAA] > D [GAT]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform b	NP_112562.3:p.Glu1409Asp	E (Glu) > D (Asp)	Missense Variant
TEX14 transcript variant 2	NM_031272.5:c.4227A>G	E [GAA] > E [GAG]	Coding Sequence Variant
inactive serine/threonine-protein kinase TEX14 isoform b	NP_112562.3:p.Glu1409=	E (Glu) > E (Glu)	Synonymous 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
GRCh38.p14 chr 17	NC_000017.11:g.58559493=	NC_000017.11:g.58559493T>A	NC_000017.11:g.58559493T>C
GRCh37.p13 chr 17	NC_000017.10:g.56636854=	NC_000017.10:g.56636854T>A	NC_000017.10:g.56636854T>C
TEX14 RefSeqGene	NG_047169.1:g.137587=	NG_047169.1:g.137587A>T	NG_047169.1:g.137587A>G
TEX14 transcript variant 2	NM_031272.5:c.4227=	NM_031272.5:c.4227A>T	NM_031272.5:c.4227A>G
TEX14 transcript variant 2	NM_031272.4:c.4227=	NM_031272.4:c.4227A>T	NM_031272.4:c.4227A>G
TEX14 transcript variant 1	NM_198393.4:c.4347=	NM_198393.4:c.4347A>T	NM_198393.4:c.4347A>G
TEX14 transcript variant 1	NM_198393.3:c.4347=	NM_198393.3:c.4347A>T	NM_198393.3:c.4347A>G
TEX14 transcript variant 3	NM_001201457.2:c.4365=	NM_001201457.2:c.4365A>T	NM_001201457.2:c.4365A>G
TEX14 transcript variant 3	NM_001201457.1:c.4365=	NM_001201457.1:c.4365A>T	NM_001201457.1:c.4365A>G
inactive serine/threonine-protein kinase TEX14 isoform b	NP_112562.3:p.Glu1409=	NP_112562.3:p.Glu1409Asp	NP_112562.3:p.Glu1409=
inactive serine/threonine-protein kinase TEX14 isoform a	NP_938207.2:p.Glu1449=	NP_938207.2:p.Glu1449Asp	NP_938207.2:p.Glu1449=
inactive serine/threonine-protein kinase TEX14 isoform c	NP_001188386.1:p.Glu1455=	NP_001188386.1:p.Glu1455Asp	NP_001188386.1:p.Glu1455=

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#.

146 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10878778	Jul 11, 2003 (116)
2	BCM_SSAHASNP	ss14290610	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss16753666	Feb 27, 2004 (120)
4	SSAHASNP	ss21372536	Apr 05, 2004 (121)
5	MGC_GENOME_DIFF	ss28508333	Sep 24, 2004 (126)
6	CANCER-GENOME	ss74801759	Dec 06, 2007 (129)
7	ILLUMINA	ss75024021	Dec 06, 2007 (129)
8	HGSV	ss80471532	Dec 15, 2007 (130)
9	HGSV	ss83932821	Dec 15, 2007 (130)
10	HGSV	ss85984481	Dec 15, 2007 (130)
11	HGSV	ss85989882	Dec 15, 2007 (130)
12	BCMHGSC_JDW	ss90627450	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss96552229	Feb 04, 2009 (130)
14	BGI	ss106513334	Feb 04, 2009 (130)
15	1000GENOMES	ss109840996	Jan 24, 2009 (130)
16	1000GENOMES	ss113674019	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss118089383	Feb 14, 2009 (130)
18	KRIBB_YJKIM	ss119547865	Dec 01, 2009 (131)
19	ENSEMBL	ss136538463	Dec 01, 2009 (131)
20	ENSEMBL	ss137130034	Dec 01, 2009 (131)
21	GMI	ss158126930	Dec 01, 2009 (131)
22	SEATTLESEQ	ss159735973	Dec 01, 2009 (131)
23	ILLUMINA	ss160862476	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss168350120	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss169899655	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss171585406	Jul 04, 2010 (132)
27	ILLUMINA	ss174298754	Jul 04, 2010 (132)
28	BUSHMAN	ss202651436	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss207783013	Jul 04, 2010 (132)
30	1000GENOMES	ss227599821	Jul 14, 2010 (132)
31	1000GENOMES	ss237283339	Jul 15, 2010 (132)
32	1000GENOMES	ss243570481	Jul 15, 2010 (132)
33	BL	ss255713327	May 09, 2011 (134)
34	GMI	ss282802538	May 04, 2012 (137)
35	GMI	ss287197559	Apr 25, 2013 (138)
36	PJP	ss291974685	May 09, 2011 (134)
37	NHLBI-ESP	ss342460067	May 09, 2011 (134)
38	ILLUMINA	ss481513023	May 04, 2012 (137)
39	ILLUMINA	ss481541569	May 04, 2012 (137)
40	ILLUMINA	ss482516750	Sep 08, 2015 (146)
41	ILLUMINA	ss485551542	May 04, 2012 (137)
42	1000GENOMES	ss491128221	May 04, 2012 (137)
43	CLINSEQ_SNP	ss491740374	May 04, 2012 (137)
44	ILLUMINA	ss537453011	Sep 08, 2015 (146)
45	TISHKOFF	ss565337513	Apr 25, 2013 (138)
46	SSMP	ss661146399	Apr 25, 2013 (138)
47	ILLUMINA	ss778597447	Sep 08, 2015 (146)
48	ILLUMINA	ss783221325	Sep 08, 2015 (146)
49	ILLUMINA	ss784175759	Sep 08, 2015 (146)
50	ILLUMINA	ss832481559	Sep 08, 2015 (146)
51	ILLUMINA	ss834054703	Sep 08, 2015 (146)
52	JMKIDD_LAB	ss974499659	Aug 21, 2014 (142)
53	EVA-GONL	ss993218186	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1067573420	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1081134281	Aug 21, 2014 (142)
56	1000GENOMES	ss1359083725	Aug 21, 2014 (142)
57	DDI	ss1428064922	Apr 01, 2015 (144)
58	EVA_GENOME_DK	ss1578201036	Apr 01, 2015 (144)
59	EVA_FINRISK	ss1584107586	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1635870076	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1678864109	Apr 01, 2015 (144)
62	EVA_EXAC	ss1692882362	Apr 01, 2015 (144)
63	EVA_DECODE	ss1697264848	Apr 01, 2015 (144)
64	EVA_MGP	ss1711467082	Apr 01, 2015 (144)
65	EVA_SVP	ss1713590414	Apr 01, 2015 (144)
66	ILLUMINA	ss1752232722	Sep 08, 2015 (146)
67	HAMMER_LAB	ss1808829461	Sep 08, 2015 (146)
68	WEILL_CORNELL_DGM	ss1936679078	Feb 12, 2016 (147)
69	GENOMED	ss1968412571	Jul 19, 2016 (147)
70	JJLAB	ss2029115095	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2157593241	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2217711124	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2629052739	Nov 08, 2017 (151)
74	ILLUMINA	ss2633410062	Nov 08, 2017 (151)
75	ILLUMINA	ss2635073102	Nov 08, 2017 (151)
76	GRF	ss2702154706	Nov 08, 2017 (151)
77	GNOMAD	ss2742880883	Nov 08, 2017 (151)
78	GNOMAD	ss2749823867	Nov 08, 2017 (151)
79	GNOMAD	ss2951130601	Nov 08, 2017 (151)
80	AFFY	ss2985735603	Nov 08, 2017 (151)
81	SWEGEN	ss3015714739	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3028380120	Nov 08, 2017 (151)
83	CSHL	ss3351791014	Nov 08, 2017 (151)
84	ILLUMINA	ss3627695174	Oct 12, 2018 (152)
85	ILLUMINA	ss3631390320	Oct 12, 2018 (152)
86	ILLUMINA	ss3633145145	Oct 12, 2018 (152)
87	ILLUMINA	ss3633852899	Oct 12, 2018 (152)
88	ILLUMINA	ss3634681205	Oct 12, 2018 (152)
89	ILLUMINA	ss3635540572	Oct 12, 2018 (152)
90	ILLUMINA	ss3636370550	Oct 12, 2018 (152)
91	ILLUMINA	ss3637292133	Oct 12, 2018 (152)
92	ILLUMINA	ss3638168168	Oct 12, 2018 (152)
93	ILLUMINA	ss3640388515	Oct 12, 2018 (152)
94	ILLUMINA	ss3643146049	Oct 12, 2018 (152)
95	OMUKHERJEE_ADBS	ss3646514167	Oct 12, 2018 (152)
96	URBANLAB	ss3650678692	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3682592600	Jul 13, 2019 (153)
98	EVA_DECODE	ss3700683966	Jul 13, 2019 (153)
99	ACPOP	ss3742119327	Jul 13, 2019 (153)
100	ILLUMINA	ss3744981470	Jul 13, 2019 (153)
101	EVA	ss3754796848	Jul 13, 2019 (153)
102	ILLUMINA	ss3772479261	Jul 13, 2019 (153)
103	PACBIO	ss3788236589	Jul 13, 2019 (153)
104	PACBIO	ss3793188374	Jul 13, 2019 (153)
105	PACBIO	ss3798074175	Jul 13, 2019 (153)
106	KHV_HUMAN_GENOMES	ss3820061868	Jul 13, 2019 (153)
107	EVA	ss3825135267	Apr 27, 2020 (154)
108	EVA	ss3825903710	Apr 27, 2020 (154)
109	EVA	ss3834921675	Apr 27, 2020 (154)
110	EVA	ss3841073754	Apr 27, 2020 (154)
111	EVA	ss3846571045	Apr 27, 2020 (154)
112	SGDP_PRJ	ss3885976388	Apr 27, 2020 (154)
113	KRGDB	ss3935704750	Apr 27, 2020 (154)
114	KOGIC	ss3979054378	Apr 27, 2020 (154)
115	FSA-LAB	ss3984119857	Apr 27, 2021 (155)
116	EVA	ss3986075320	Apr 27, 2021 (155)
117	EVA	ss3986734876	Apr 27, 2021 (155)
118	EVA	ss4017772743	Apr 27, 2021 (155)
119	TOPMED	ss5039786980	Apr 27, 2021 (155)
120	TOMMO_GENOMICS	ss5222929253	Apr 27, 2021 (155)
121	EVA	ss5236944922	Apr 27, 2021 (155)
122	EVA	ss5237240069	Apr 27, 2021 (155)
123	EVA	ss5237669463	Oct 16, 2022 (156)
124	1000G_HIGH_COVERAGE	ss5303515996	Oct 16, 2022 (156)
125	TRAN_CS_UWATERLOO	ss5314448748	Oct 16, 2022 (156)
126	EVA	ss5315894245	Oct 16, 2022 (156)
127	EVA	ss5428286634	Oct 16, 2022 (156)
128	HUGCELL_USP	ss5496525068	Oct 16, 2022 (156)
129	EVA	ss5511798485	Oct 16, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5607425083	Oct 16, 2022 (156)
131	EVA	ss5623971997	Oct 16, 2022 (156)
132	EVA	ss5624074453	Oct 16, 2022 (156)
133	SANFORD_IMAGENETICS	ss5660316249	Oct 16, 2022 (156)
134	TOMMO_GENOMICS	ss5779296992	Oct 16, 2022 (156)
135	EVA	ss5799978653	Oct 16, 2022 (156)
136	EVA	ss5800071325	Oct 16, 2022 (156)
137	EVA	ss5800210271	Oct 16, 2022 (156)
138	YY_MCH	ss5816630800	Oct 16, 2022 (156)
139	EVA	ss5834131487	Oct 16, 2022 (156)
140	EVA	ss5848454265	Oct 16, 2022 (156)
141	EVA	ss5851849711	Oct 16, 2022 (156)
142	EVA	ss5914365624	Oct 16, 2022 (156)
143	EVA	ss5936568424	Oct 16, 2022 (156)
144	EVA	ss5951710990	Oct 16, 2022 (156)
145	EVA	ss5980975114	Oct 16, 2022 (156)
146	EVA	ss5981302700	Oct 16, 2022 (156)
147	1000Genomes	NC_000017.10 - 56636854	Oct 12, 2018 (152)
148	1000Genomes_30x	NC_000017.11 - 58559493	Oct 16, 2022 (156)
149	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 56636854	Oct 12, 2018 (152)
150	Genetic variation in the Estonian population	NC_000017.10 - 56636854	Oct 12, 2018 (152)
151	ExAC	NC_000017.10 - 56636854	Oct 12, 2018 (152)
152	FINRISK	NC_000017.10 - 56636854	Apr 27, 2020 (154)
153	The Danish reference pan genome	NC_000017.10 - 56636854	Apr 27, 2020 (154)
154	gnomAD - Genomes	NC_000017.11 - 58559493	Apr 27, 2021 (155)
155	gnomAD - Exomes	NC_000017.10 - 56636854	Jul 13, 2019 (153)
156	GO Exome Sequencing Project	NC_000017.10 - 56636854	Oct 12, 2018 (152)
157	Genome of the Netherlands Release 5	NC_000017.10 - 56636854	Apr 27, 2020 (154)
158	HapMap	NC_000017.11 - 58559493	Apr 27, 2020 (154)
159	KOREAN population from KRGDB	NC_000017.10 - 56636854	Apr 27, 2020 (154)
160	Korean Genome Project	NC_000017.11 - 58559493	Apr 27, 2020 (154)
161	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 56636854	Apr 27, 2020 (154)
162	Northern Sweden	NC_000017.10 - 56636854	Jul 13, 2019 (153)
163	Qatari	NC_000017.10 - 56636854	Apr 27, 2020 (154)
164	SGDP_PRJ	NC_000017.10 - 56636854	Apr 27, 2020 (154)
165	Siberian	NC_000017.10 - 56636854	Apr 27, 2020 (154)
166	8.3KJPN	NC_000017.10 - 56636854	Apr 27, 2021 (155)
167	14KJPN	NC_000017.11 - 58559493	Oct 16, 2022 (156)
168	TopMed	NC_000017.11 - 58559493	Apr 27, 2021 (155)
169	UK 10K study - Twins	NC_000017.10 - 56636854	Oct 12, 2018 (152)
170	A Vietnamese Genetic Variation Database	NC_000017.10 - 56636854	Jul 13, 2019 (153)
171	ALFA	NC_000017.11 - 58559493	Apr 27, 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)
rs17854031	Mar 11, 2006 (126)
rs58380510	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
42882144, ss3935704750	NC_000017.10:56636853:T:A	NC_000017.11:58559492:T:A	(self)
ss80471532, ss83932821, ss85984481, ss85989882, ss90627450, ss109840996, ss113674019, ss118089383, ss168350120, ss169899655, ss171585406, ss202651436, ss207783013, ss255713327, ss282802538, ss287197559, ss291974685, ss481513023, ss491740374, ss1697264848, ss1713590414, ss2635073102, ss3643146049	NC_000017.9:53991852:T:C	NC_000017.11:58559492:T:C	(self)
72341699, 40089997, 28330848, 3333302, 104047, 4401546, 12185684, 1592333, 17865512, 42882144, 582842, 15404192, 18721000, 37993368, 10109595, 80898560, 40089997, 8866760, ss227599821, ss237283339, ss243570481, ss342460067, ss481541569, ss482516750, ss485551542, ss491128221, ss537453011, ss565337513, ss661146399, ss778597447, ss783221325, ss784175759, ss832481559, ss834054703, ss974499659, ss993218186, ss1067573420, ss1081134281, ss1359083725, ss1428064922, ss1578201036, ss1584107586, ss1635870076, ss1678864109, ss1692882362, ss1711467082, ss1752232722, ss1808829461, ss1936679078, ss1968412571, ss2029115095, ss2157593241, ss2629052739, ss2633410062, ss2702154706, ss2742880883, ss2749823867, ss2951130601, ss2985735603, ss3015714739, ss3351791014, ss3627695174, ss3631390320, ss3633145145, ss3633852899, ss3634681205, ss3635540572, ss3636370550, ss3637292133, ss3638168168, ss3640388515, ss3646514167, ss3682592600, ss3742119327, ss3744981470, ss3754796848, ss3772479261, ss3788236589, ss3793188374, ss3798074175, ss3825135267, ss3825903710, ss3834921675, ss3841073754, ss3885976388, ss3935704750, ss3984119857, ss3986075320, ss3986734876, ss4017772743, ss5222929253, ss5315894245, ss5428286634, ss5511798485, ss5623971997, ss5624074453, ss5660316249, ss5799978653, ss5800071325, ss5800210271, ss5834131487, ss5848454265, ss5936568424, ss5951710990, ss5980975114, ss5981302700	NC_000017.10:56636853:T:C	NC_000017.11:58559492:T:C	(self)
94951018, 510450262, 1507701, 35432379, 113134096, 255332642, 13521432289, ss2217711124, ss3028380120, ss3650678692, ss3700683966, ss3820061868, ss3846571045, ss3979054378, ss5039786980, ss5236944922, ss5237240069, ss5237669463, ss5303515996, ss5314448748, ss5496525068, ss5607425083, ss5779296992, ss5816630800, ss5851849711, ss5914365624	NC_000017.11:58559492:T:C	NC_000017.11:58559492:T:C	(self)
ss10878778	NT_010783.13:11930052:T:C	NC_000017.11:58559492:T:C	(self)
ss14290610, ss16753666, ss21372536	NT_010783.14:15290131:T:C	NC_000017.11:58559492:T:C	(self)
ss28508333, ss74801759, ss75024021, ss96552229, ss106513334, ss119547865, ss136538463, ss137130034, ss158126930, ss159735973, ss160862476, ss174298754	NT_010783.15:21911005:T:C	NC_000017.11:58559492: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 rs7225128

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

rs7225128