Name: rs9414747
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.

rs9414747

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:60762637 (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=0.464702 (123002/264690, TOPMED)
T=0.456008 (63822/139958, GnomAD)
T=0.47169 (37122/78700, PAGE_STUDY) (+ 17 more)
T=0.46171 (18777/40668, ALFA)
C=0.49023 (13853/28258, 14KJPN)
C=0.49248 (8254/16760, 8.3KJPN)
T=0.4702 (3011/6404, 1000G_30x)
T=0.4692 (2350/5008, 1000G)
T=0.4321 (1936/4480, Estonian)
T=0.4730 (1823/3854, ALSPAC)
T=0.4657 (1727/3708, TWINSUK)
T=0.3918 (1148/2930, KOREAN)
T=0.4903 (557/1136, Daghestan)
T=0.445 (444/998, GoNL)
T=0.405 (243/600, NorthernSweden)
T=0.316 (125/396, SGDP_PRJ)
T=0.454 (98/216, Qatari)
T=0.343 (74/216, Vietnamese)
T=0.45 (18/40, GENOME_DK)
T=0.28 (11/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	40760	T=0.46197	C=0.53803
European	Sub	31078	T=0.46264	C=0.53736
African	Sub	6238	T=0.4351	C=0.5649
African Others	Sub	208	T=0.365	C=0.635
African American	Sub	6030	T=0.4375	C=0.5625
Asian	Sub	164	T=0.311	C=0.689
East Asian	Sub	136	T=0.316	C=0.684
Other Asian	Sub	28	T=0.29	C=0.71
Latin American 1	Sub	168	T=0.506	C=0.494
Latin American 2	Sub	700	T=0.581	C=0.419
South Asian	Sub	122	T=0.590	C=0.410
Other	Sub	2290	T=0.4904	C=0.5096

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=0.464702	C=0.535298
gnomAD - Genomes	Global	Study-wide	139958	T=0.456008	C=0.543992
gnomAD - Genomes	European	Sub	75816	T=0.45691	C=0.54309
gnomAD - Genomes	African	Sub	41920	T=0.43104	C=0.56896
gnomAD - Genomes	American	Sub	13636	T=0.52779	C=0.47221
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.5316	C=0.4684
gnomAD - Genomes	East Asian	Sub	3122	T=0.3642	C=0.6358
gnomAD - Genomes	Other	Sub	2146	T=0.4725	C=0.5275
The PAGE Study	Global	Study-wide	78700	T=0.47169	C=0.52831
The PAGE Study	AfricanAmerican	Sub	32516	T=0.42721	C=0.57279
The PAGE Study	Mexican	Sub	10810	T=0.59121	C=0.40879
The PAGE Study	Asian	Sub	8318	T=0.4739	C=0.5261
The PAGE Study	PuertoRican	Sub	7916	T=0.5011	C=0.4989
The PAGE Study	NativeHawaiian	Sub	4534	T=0.3330	C=0.6670
The PAGE Study	Cuban	Sub	4230	T=0.4712	C=0.5288
The PAGE Study	Dominican	Sub	3828	T=0.4632	C=0.5368
The PAGE Study	CentralAmerican	Sub	2450	T=0.5845	C=0.4155
The PAGE Study	SouthAmerican	Sub	1982	T=0.5600	C=0.4400
The PAGE Study	NativeAmerican	Sub	1260	T=0.5095	C=0.4905
The PAGE Study	SouthAsian	Sub	856	T=0.550	C=0.450
Allele Frequency Aggregator	Total	Global	40668	T=0.46171	C=0.53829
Allele Frequency Aggregator	European	Sub	31004	T=0.46246	C=0.53754
Allele Frequency Aggregator	African	Sub	6238	T=0.4351	C=0.5649
Allele Frequency Aggregator	Other	Sub	2272	T=0.4886	C=0.5114
Allele Frequency Aggregator	Latin American 2	Sub	700	T=0.581	C=0.419
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.506	C=0.494
Allele Frequency Aggregator	Asian	Sub	164	T=0.311	C=0.689
Allele Frequency Aggregator	South Asian	Sub	122	T=0.590	C=0.410
14KJPN	JAPANESE	Study-wide	28258	T=0.50977	C=0.49023
8.3KJPN	JAPANESE	Study-wide	16760	T=0.50752	C=0.49248
1000Genomes_30x	Global	Study-wide	6404	T=0.4702	C=0.5298
1000Genomes_30x	African	Sub	1786	T=0.4183	C=0.5817
1000Genomes_30x	Europe	Sub	1266	T=0.4621	C=0.5379
1000Genomes_30x	South Asian	Sub	1202	T=0.5458	C=0.4542
1000Genomes_30x	East Asian	Sub	1170	T=0.3897	C=0.6103
1000Genomes_30x	American	Sub	980	T=0.579	C=0.421
1000Genomes	Global	Study-wide	5008	T=0.4692	C=0.5308
1000Genomes	African	Sub	1322	T=0.4138	C=0.5862
1000Genomes	East Asian	Sub	1008	T=0.3929	C=0.6071
1000Genomes	Europe	Sub	1006	T=0.4642	C=0.5358
1000Genomes	South Asian	Sub	978	T=0.547	C=0.453
1000Genomes	American	Sub	694	T=0.584	C=0.416
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4321	C=0.5679
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4730	C=0.5270
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4657	C=0.5343
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3918	A=0.0000, C=0.6082, G=0.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.4903	C=0.5097
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.500	C=0.500
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.493	C=0.507
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.443	C=0.557
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.426	C=0.574
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.54	C=0.46
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.53	C=0.47
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.445	C=0.555
Northern Sweden	ACPOP	Study-wide	600	T=0.405	C=0.595
SGDP_PRJ	Global	Study-wide	396	T=0.316	C=0.684
Qatari	Global	Study-wide	216	T=0.454	C=0.546
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.343	C=0.657
The Danish reference pan genome	Danish	Study-wide	40	T=0.45	C=0.55
Siberian	Global	Study-wide	40	T=0.28	C=0.72

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 10	NC_000010.11:g.60762637T>A
GRCh38.p14 chr 10	NC_000010.11:g.60762637T>C
GRCh38.p14 chr 10	NC_000010.11:g.60762637T>G
GRCh37.p13 chr 10	NC_000010.10:g.62522395T>A
GRCh37.p13 chr 10	NC_000010.10:g.62522395T>C
GRCh37.p13 chr 10	NC_000010.10:g.62522395T>G

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 10	NC_000010.11:g.60762637=	NC_000010.11:g.60762637T>A	NC_000010.11:g.60762637T>C	NC_000010.11:g.60762637T>G
GRCh37.p13 chr 10	NC_000010.10:g.62522395=	NC_000010.10:g.62522395T>A	NC_000010.10:g.62522395T>C	NC_000010.10:g.62522395T>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#.

91 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12953984	Dec 05, 2003 (119)
2	SC_SNP	ss16048444	Feb 27, 2004 (120)
3	HGSV	ss80443783	Dec 15, 2007 (130)
4	HGSV	ss84734517	Dec 15, 2007 (130)
5	HGSV	ss85954168	Dec 15, 2007 (130)
6	BGI	ss102883643	Dec 01, 2009 (131)
7	1000GENOMES	ss109490925	Jan 24, 2009 (130)
8	1000GENOMES	ss113347770	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss119190179	Feb 15, 2009 (130)
10	GMI	ss155112345	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss168447742	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss170176008	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss174575010	Jul 04, 2010 (132)
14	BUSHMAN	ss201594560	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207327446	Jul 04, 2010 (132)
16	1000GENOMES	ss224758346	Jul 14, 2010 (132)
17	1000GENOMES	ss235199340	Jul 15, 2010 (132)
18	1000GENOMES	ss241900574	Jul 15, 2010 (132)
19	BL	ss254360600	May 09, 2011 (134)
20	GMI	ss280640463	May 04, 2012 (137)
21	ILLUMINA	ss482624030	May 04, 2012 (137)
22	ILLUMINA	ss484199106	May 04, 2012 (137)
23	ILLUMINA	ss536386735	Sep 08, 2015 (146)
24	TISHKOFF	ss561993031	Apr 25, 2013 (138)
25	SSMP	ss656817862	Apr 25, 2013 (138)
26	ILLUMINA	ss780665772	Sep 08, 2015 (146)
27	ILLUMINA	ss782545496	Sep 08, 2015 (146)
28	ILLUMINA	ss836161496	Sep 08, 2015 (146)
29	EVA-GONL	ss987549804	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1077032294	Aug 21, 2014 (142)
31	1000GENOMES	ss1337667654	Aug 21, 2014 (142)
32	HAMMER_LAB	ss1397583130	Sep 08, 2015 (146)
33	DDI	ss1426339588	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1575154266	Apr 01, 2015 (144)
35	EVA_DECODE	ss1597216262	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1624686811	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1667680844	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1806415986	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1930913747	Feb 12, 2016 (147)
40	ILLUMINA	ss1959266811	Feb 12, 2016 (147)
41	GENOMED	ss1967142983	Jul 19, 2016 (147)
42	JJLAB	ss2026180125	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2154453272	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2175217201	Dec 20, 2016 (150)
45	SYSTEMSBIOZJU	ss2627560431	Nov 08, 2017 (151)
46	ILLUMINA	ss2632717857	Nov 08, 2017 (151)
47	GRF	ss2698697391	Nov 08, 2017 (151)
48	GNOMAD	ss2889429834	Nov 08, 2017 (151)
49	AFFY	ss2984913307	Nov 08, 2017 (151)
50	AFFY	ss2985558287	Nov 08, 2017 (151)
51	SWEGEN	ss3006572864	Nov 08, 2017 (151)
52	ILLUMINA	ss3021244549	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3026881230	Nov 08, 2017 (151)
54	CSHL	ss3349150324	Nov 08, 2017 (151)
55	ILLUMINA	ss3626457998	Oct 12, 2018 (152)
56	ILLUMINA	ss3630743295	Oct 12, 2018 (152)
57	ILLUMINA	ss3641680842	Oct 12, 2018 (152)
58	ILLUMINA	ss3651599716	Oct 12, 2018 (152)
59	ILLUMINA	ss3653683889	Oct 12, 2018 (152)
60	EGCUT_WGS	ss3673985330	Jul 13, 2019 (153)
61	EVA_DECODE	ss3689992618	Jul 13, 2019 (153)
62	ILLUMINA	ss3725161211	Jul 13, 2019 (153)
63	ACPOP	ss3737373053	Jul 13, 2019 (153)
64	EVA	ss3748171821	Jul 13, 2019 (153)
65	PAGE_CC	ss3771560907	Jul 13, 2019 (153)
66	PACBIO	ss3786689004	Jul 13, 2019 (153)
67	PACBIO	ss3791867504	Jul 13, 2019 (153)
68	PACBIO	ss3796749522	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3813547483	Jul 13, 2019 (153)
70	EVA	ss3832155582	Apr 26, 2020 (154)
71	EVA	ss3839617292	Apr 26, 2020 (154)
72	EVA	ss3845089530	Apr 26, 2020 (154)
73	SGDP_PRJ	ss3874329606	Apr 26, 2020 (154)
74	KRGDB	ss3922399619	Apr 26, 2020 (154)
75	TOPMED	ss4854403636	Apr 27, 2021 (155)
76	TOMMO_GENOMICS	ss5197891183	Apr 27, 2021 (155)
77	1000G_HIGH_COVERAGE	ss5284248879	Oct 16, 2022 (156)
78	EVA	ss5315476798	Oct 16, 2022 (156)
79	EVA	ss5393823332	Oct 16, 2022 (156)
80	HUGCELL_USP	ss5479805661	Oct 16, 2022 (156)
81	1000G_HIGH_COVERAGE	ss5578299247	Oct 16, 2022 (156)
82	SANFORD_IMAGENETICS	ss5624248942	Oct 16, 2022 (156)
83	SANFORD_IMAGENETICS	ss5649402871	Oct 16, 2022 (156)
84	TOMMO_GENOMICS	ss5743795488	Oct 16, 2022 (156)
85	YY_MCH	ss5811582834	Oct 16, 2022 (156)
86	EVA	ss5824475381	Oct 16, 2022 (156)
87	EVA	ss5847373663	Oct 16, 2022 (156)
88	EVA	ss5849591163	Oct 16, 2022 (156)
89	EVA	ss5879131659	Oct 16, 2022 (156)
90	EVA	ss5940673222	Oct 16, 2022 (156)
91	EVA	ss5979327317	Oct 16, 2022 (156)
92	1000Genomes	NC_000010.10 - 62522395	Oct 12, 2018 (152)
93	1000Genomes_30x	NC_000010.11 - 60762637	Oct 16, 2022 (156)
94	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 62522395	Oct 12, 2018 (152)
95	Genome-wide autozygosity in Daghestan	NC_000010.9 - 62192401	Apr 26, 2020 (154)
96	Genetic variation in the Estonian population	NC_000010.10 - 62522395	Oct 12, 2018 (152)
97	The Danish reference pan genome	NC_000010.10 - 62522395	Apr 26, 2020 (154)
98	gnomAD - Genomes	NC_000010.11 - 60762637	Apr 27, 2021 (155)
99	Genome of the Netherlands Release 5	NC_000010.10 - 62522395	Apr 26, 2020 (154)
100	KOREAN population from KRGDB	NC_000010.10 - 62522395	Apr 26, 2020 (154)
101	Northern Sweden	NC_000010.10 - 62522395	Jul 13, 2019 (153)
102	The PAGE Study	NC_000010.11 - 60762637	Jul 13, 2019 (153)
103	Qatari	NC_000010.10 - 62522395	Apr 26, 2020 (154)
104	SGDP_PRJ	NC_000010.10 - 62522395	Apr 26, 2020 (154)
105	Siberian	NC_000010.10 - 62522395	Apr 26, 2020 (154)
106	8.3KJPN	NC_000010.10 - 62522395	Apr 27, 2021 (155)
107	14KJPN	NC_000010.11 - 60762637	Oct 16, 2022 (156)
108	TopMed	NC_000010.11 - 60762637	Apr 27, 2021 (155)
109	UK 10K study - Twins	NC_000010.10 - 62522395	Oct 12, 2018 (152)
110	A Vietnamese Genetic Variation Database	NC_000010.10 - 62522395	Jul 13, 2019 (153)
111	ALFA	NC_000010.11 - 60762637	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)
rs60930155	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
29577013, ss3922399619	NC_000010.10:62522394:T:A	NC_000010.11:60762636:T:A	(self)
ss80443783, ss84734517, ss85954168	NC_000010.8:62192400:T:C	NC_000010.11:60762636:T:C	(self)
54626, ss109490925, ss113347770, ss119190179, ss168447742, ss170176008, ss174575010, ss201594560, ss207327446, ss254360600, ss280640463, ss482624030, ss1397583130, ss1597216262	NC_000010.9:62192400:T:C	NC_000010.11:60762636:T:C	(self)
50063999, 27786072, 19723578, 2181639, 12392214, 29577013, 10657918, 12955677, 26346586, 6969626, 55860490, 27786072, 6171187, ss224758346, ss235199340, ss241900574, ss484199106, ss536386735, ss561993031, ss656817862, ss780665772, ss782545496, ss836161496, ss987549804, ss1077032294, ss1337667654, ss1426339588, ss1575154266, ss1624686811, ss1667680844, ss1806415986, ss1930913747, ss1959266811, ss1967142983, ss2026180125, ss2154453272, ss2627560431, ss2632717857, ss2698697391, ss2889429834, ss2984913307, ss2985558287, ss3006572864, ss3021244549, ss3349150324, ss3626457998, ss3630743295, ss3641680842, ss3651599716, ss3653683889, ss3673985330, ss3737373053, ss3748171821, ss3786689004, ss3791867504, ss3796749522, ss3832155582, ss3839617292, ss3874329606, ss3922399619, ss5197891183, ss5315476798, ss5393823332, ss5624248942, ss5649402871, ss5824475381, ss5847373663, ss5940673222, ss5979327317	NC_000010.10:62522394:T:C	NC_000010.11:60762636:T:C	(self)
65825182, 353870214, 782376, 77632592, 69949291, 7864858567, ss2175217201, ss3026881230, ss3689992618, ss3725161211, ss3771560907, ss3813547483, ss3845089530, ss4854403636, ss5284248879, ss5479805661, ss5578299247, ss5743795488, ss5811582834, ss5849591163, ss5879131659	NC_000010.11:60762636:T:C	NC_000010.11:60762636:T:C	(self)
ss12953984	NT_008583.15:11073542:T:C	NC_000010.11:60762636:T:C	(self)
ss16048444	NT_008583.16:11073549:T:C	NC_000010.11:60762636:T:C	(self)
ss102883643, ss155112345	NT_030059.13:13326858:T:C	NC_000010.11:60762636:T:C	(self)
29577013, ss3922399619	NC_000010.10:62522394:T:G	NC_000010.11:60762636:T:G	(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 rs9414747

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

rs9414747