Name: rs14
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.

rs14

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:11341215 (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=0.009430 (2496/264690, TOPMED)
T=0.013144 (1843/140212, GnomAD)
T=0.00004 (1/28258, 14KJPN) (+ 18 more)
T=0.01303 (250/19190, ALFA)
T=0.00006 (1/16758, 8.3KJPN)
T=0.0059 (38/6404, 1000G_30x)
T=0.0054 (27/5008, 1000G)
T=0.0150 (67/4480, Estonian)
T=0.0143 (55/3854, ALSPAC)
T=0.0175 (65/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
A=0.0000 (0/2930, KOREAN)
G=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.008 (8/998, GoNL)
T=0.012 (7/600, NorthernSweden)
T=0.007 (4/558, SGDP_PRJ)
T=0.000 (0/216, Qatari)
T=0.000 (0/214, Vietnamese)
T=0.05 (3/56, Siberian)
T=0.05 (2/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC124901590 : Intron Variant
Publications: 1 citation
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	19190	T=0.01303	C=0.98697
European	Sub	14286	T=0.01561	C=0.98439
African	Sub	2970	T=0.0024	C=0.9976
African Others	Sub	114	T=0.000	C=1.000
African American	Sub	2856	T=0.0025	C=0.9975
Asian	Sub	116	T=0.000	C=1.000
East Asian	Sub	88	T=0.00	C=1.00
Other Asian	Sub	28	T=0.00	C=1.00
Latin American 1	Sub	154	T=0.006	C=0.994
Latin American 2	Sub	616	T=0.006	C=0.994
South Asian	Sub	98	T=0.01	C=0.99
Other	Sub	950	T=0.015	C=0.985

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=0.009430	C=0.990570
gnomAD - Genomes	Global	Study-wide	140212	T=0.013144	C=0.986856
gnomAD - Genomes	European	Sub	75942	T=0.01961	C=0.98039
gnomAD - Genomes	African	Sub	42018	T=0.00276	C=0.99724
gnomAD - Genomes	American	Sub	13646	T=0.01370	C=0.98630
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0084	C=0.9916
gnomAD - Genomes	East Asian	Sub	3130	T=0.0000	C=1.0000
gnomAD - Genomes	Other	Sub	2152	T=0.0107	C=0.9893
14KJPN	JAPANESE	Study-wide	28258	T=0.00004	C=0.99996
Allele Frequency Aggregator	Total	Global	19190	T=0.01303	C=0.98697
Allele Frequency Aggregator	European	Sub	14286	T=0.01561	C=0.98439
Allele Frequency Aggregator	African	Sub	2970	T=0.0024	C=0.9976
Allele Frequency Aggregator	Other	Sub	950	T=0.015	C=0.985
Allele Frequency Aggregator	Latin American 2	Sub	616	T=0.006	C=0.994
Allele Frequency Aggregator	Latin American 1	Sub	154	T=0.006	C=0.994
Allele Frequency Aggregator	Asian	Sub	116	T=0.000	C=1.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.01	C=0.99
8.3KJPN	JAPANESE	Study-wide	16758	T=0.00006	C=0.99994
1000Genomes_30x	Global	Study-wide	6404	T=0.0059	C=0.9941
1000Genomes_30x	African	Sub	1786	T=0.0000	C=1.0000
1000Genomes_30x	Europe	Sub	1266	T=0.0150	C=0.9850
1000Genomes_30x	South Asian	Sub	1202	T=0.0092	C=0.9908
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	T=0.008	C=0.992
1000Genomes	Global	Study-wide	5008	T=0.0054	C=0.9946
1000Genomes	African	Sub	1322	T=0.0000	C=1.0000
1000Genomes	East Asian	Sub	1008	T=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	T=0.0139	C=0.9861
1000Genomes	South Asian	Sub	978	T=0.007	C=0.993
1000Genomes	American	Sub	694	T=0.009	C=0.991
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0150	C=0.9850
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0143	C=0.9857
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0175	C=0.9825
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0000	A=0.0000, C=1.0000, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.008	C=0.992
Northern Sweden	ACPOP	Study-wide	600	T=0.012	C=0.988
SGDP_PRJ	Global	Study-wide	558	T=0.007	C=0.993
Qatari	Global	Study-wide	216	T=0.000	C=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.000	C=1.000
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 7	NC_000007.14:g.11341215T>A
GRCh38.p14 chr 7	NC_000007.14:g.11341215T>C
GRCh38.p14 chr 7	NC_000007.14:g.11341215T>G
GRCh37.p13 chr 7	NC_000007.13:g.11380842T>A
GRCh37.p13 chr 7	NC_000007.13:g.11380842T>C
GRCh37.p13 chr 7	NC_000007.13:g.11380842T>G

Gene: LOC124901590, uncharacterized LOC124901590 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124901590 transcript	XR_007060212.1: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=	A	C	G
GRCh38.p14 chr 7	NC_000007.14:g.11341215=	NC_000007.14:g.11341215T>A	NC_000007.14:g.11341215T>C	NC_000007.14:g.11341215T>G
GRCh37.p13 chr 7	NC_000007.13:g.11380842=	NC_000007.13:g.11380842T>A	NC_000007.13:g.11380842T>C	NC_000007.13:g.11380842T>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#.

81 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss13	Sep 19, 2000 (36)
2	KWOK	ss43515	May 07, 2000 (76)
3	WUGSC_SSAHASNP	ss14576423	Dec 05, 2003 (120)
4	CSHL-HAPMAP	ss19723396	Feb 27, 2004 (120)
5	SSAHASNP	ss22571475	Apr 05, 2004 (121)
6	SSAHASNP	ss22953468	Apr 05, 2004 (121)
7	HGSV	ss84216595	Dec 14, 2007 (130)
8	BCMHGSC_JDW	ss93627800	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss98132569	Feb 03, 2009 (130)
10	BGI	ss105492285	Feb 03, 2009 (130)
11	1000GENOMES	ss111509655	Jan 25, 2009 (130)
12	1000GENOMES	ss113304706	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss115928691	Feb 14, 2009 (130)
14	ENSEMBL	ss142653164	Dec 01, 2009 (131)
15	ENSEMBL	ss143899691	Dec 01, 2009 (131)
16	GMI	ss158039844	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss162047849	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss163635359	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss166137646	Jul 04, 2010 (132)
20	BUSHMAN	ss202940116	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss208029825	Jul 04, 2010 (132)
22	1000GENOMES	ss222902652	Jul 14, 2010 (132)
23	1000GENOMES	ss233846531	Jul 15, 2010 (132)
24	1000GENOMES	ss240826977	Jul 15, 2010 (132)
25	BL	ss254048510	May 09, 2011 (134)
26	GMI	ss279183189	May 04, 2012 (137)
27	GMI	ss285573605	Apr 25, 2013 (138)
28	PJP	ss293988276	May 09, 2011 (134)
29	ILLUMINA	ss536358629	Sep 08, 2015 (146)
30	TISHKOFF	ss559801456	Apr 25, 2013 (138)
31	SSMP	ss654149810	Apr 25, 2013 (138)
32	EVA-GONL	ss983941041	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1074353930	Aug 21, 2014 (142)
34	1000GENOMES	ss1323900454	Aug 21, 2014 (142)
35	DDI	ss1431026127	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1582067447	Apr 01, 2015 (144)
37	EVA_DECODE	ss1593505157	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1617556338	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1660550371	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1804864001	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1927186567	Feb 12, 2016 (147)
42	GENOMED	ss1970622268	Jul 19, 2016 (147)
43	JJLAB	ss2024264584	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2152463555	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2291604144	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2626621961	Nov 08, 2017 (151)
47	GRF	ss2708113770	Nov 08, 2017 (151)
48	GNOMAD	ss2849686671	Nov 08, 2017 (151)
49	SWEGEN	ss3000616774	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3025926180	Nov 08, 2017 (151)
51	CSHL	ss3347433304	Nov 08, 2017 (151)
52	ILLUMINA	ss3629749060	Oct 12, 2018 (152)
53	URBANLAB	ss3648561028	Oct 12, 2018 (152)
54	EGCUT_WGS	ss3668535216	Jul 13, 2019 (153)
55	EVA_DECODE	ss3719087910	Jul 13, 2019 (153)
56	ACPOP	ss3734351449	Jul 13, 2019 (153)
57	EVA	ss3766179179	Jul 13, 2019 (153)
58	PACBIO	ss3785732560	Jul 13, 2019 (153)
59	PACBIO	ss3791046870	Jul 13, 2019 (153)
60	PACBIO	ss3795926568	Jul 13, 2019 (153)
61	KHV_HUMAN_GENOMES	ss3809344556	Jul 13, 2019 (153)
62	EVA	ss3830410344	Apr 26, 2020 (154)
63	EVA	ss3838691246	Apr 26, 2020 (154)
64	EVA	ss3844141913	Apr 26, 2020 (154)
65	SGDP_PRJ	ss3866615574	Apr 26, 2020 (154)
66	KRGDB	ss3913641875	Apr 26, 2020 (154)
67	KOGIC	ss3960874842	Apr 26, 2020 (154)
68	TOPMED	ss4735335235	Apr 26, 2021 (155)
69	TOMMO_GENOMICS	ss5181783525	Apr 26, 2021 (155)
70	1000G_HIGH_COVERAGE	ss5271803948	Oct 13, 2022 (156)
71	EVA	ss5371605361	Oct 13, 2022 (156)
72	HUGCELL_USP	ss5469090216	Oct 13, 2022 (156)
73	1000G_HIGH_COVERAGE	ss5559428964	Oct 13, 2022 (156)
74	SANFORD_IMAGENETICS	ss5642329774	Oct 13, 2022 (156)
75	TOMMO_GENOMICS	ss5721230845	Oct 13, 2022 (156)
76	YY_MCH	ss5808328158	Oct 13, 2022 (156)
77	EVA	ss5822399497	Oct 13, 2022 (156)
78	EVA	ss5855758975	Oct 13, 2022 (156)
79	EVA	ss5857676595	Oct 13, 2022 (156)
80	EVA	ss5971519477	Oct 13, 2022 (156)
81	EVA	ss5980417352	Oct 13, 2022 (156)
82	1000Genomes	NC_000007.13 - 11380842	Oct 12, 2018 (152)
83	1000Genomes_30x	NC_000007.14 - 11341215	Oct 13, 2022 (156)
84	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 11380842	Oct 12, 2018 (152)
85	Genetic variation in the Estonian population	NC_000007.13 - 11380842	Oct 12, 2018 (152)
86	The Danish reference pan genome	NC_000007.13 - 11380842	Apr 26, 2020 (154)
87	gnomAD - Genomes	NC_000007.14 - 11341215	Apr 26, 2021 (155)
88	Genome of the Netherlands Release 5	NC_000007.13 - 11380842	Apr 26, 2020 (154)
89	KOREAN population from KRGDB	NC_000007.13 - 11380842	Apr 26, 2020 (154)
90	Korean Genome Project	NC_000007.14 - 11341215	Apr 26, 2020 (154)
91	Northern Sweden	NC_000007.13 - 11380842	Jul 13, 2019 (153)
92	Qatari	NC_000007.13 - 11380842	Apr 26, 2020 (154)
93	SGDP_PRJ	NC_000007.13 - 11380842	Apr 26, 2020 (154)
94	Siberian	NC_000007.13 - 11380842	Apr 26, 2020 (154)
95	8.3KJPN	NC_000007.13 - 11380842	Apr 26, 2021 (155)
96	14KJPN	NC_000007.14 - 11341215	Oct 13, 2022 (156)
97	TopMed	NC_000007.14 - 11341215	Apr 26, 2021 (155)
98	UK 10K study - Twins	NC_000007.13 - 11380842	Oct 12, 2018 (152)
99	A Vietnamese Genetic Variation Database	NC_000007.13 - 11380842	Jul 13, 2019 (153)
100	ALFA	NC_000007.14 - 11341215	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)
rs10370947	Feb 27, 2004 (120)
rs56917606	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
20819269, ss3913641875	NC_000007.13:11380841:T:A	NC_000007.14:11341214:T:A	(self)
ss84216595	NC_000007.11:11154081:T:C	NC_000007.14:11341214:T:C	(self)
ss93627800, ss111509655, ss113304706, ss115928691, ss162047849, ss163635359, ss166137646, ss202940116, ss208029825, ss254048510, ss279183189, ss285573605, ss293988276, ss1593505157	NC_000007.12:11347366:T:C	NC_000007.14:11341214:T:C	(self)
35827579, 19971054, 14273464, 8232386, 8899253, 20819269, 7636314, 9228497, 18632554, 4979909, 39752832, 19971054, 4445679, ss222902652, ss233846531, ss240826977, ss536358629, ss559801456, ss654149810, ss983941041, ss1074353930, ss1323900454, ss1431026127, ss1582067447, ss1617556338, ss1660550371, ss1804864001, ss1927186567, ss1970622268, ss2024264584, ss2152463555, ss2626621961, ss2708113770, ss2849686671, ss3000616774, ss3347433304, ss3629749060, ss3668535216, ss3734351449, ss3766179179, ss3785732560, ss3791046870, ss3795926568, ss3830410344, ss3838691246, ss3866615574, ss3913641875, ss5181783525, ss5371605361, ss5642329774, ss5822399497, ss5971519477, ss5980417352	NC_000007.13:11380841:T:C	NC_000007.14:11341214:T:C	(self)
46954899, 252688261, 17252843, 55067949, 572712794, 14023831334, ss2291604144, ss3025926180, ss3648561028, ss3719087910, ss3809344556, ss3844141913, ss3960874842, ss4735335235, ss5271803948, ss5469090216, ss5559428964, ss5721230845, ss5808328158, ss5855758975, ss5857676595	NC_000007.14:11341214:T:C	NC_000007.14:11341214:T:C	(self)
ss14576423, ss19723396, ss22571475, ss22953468	NT_007819.14:10676514:T:C	NC_000007.14:11341214:T:C	(self)
ss13, ss43515, ss98132569, ss105492285, ss142653164, ss143899691, ss158039844	NT_007819.17:11370841:T:C	NC_000007.14:11341214:T:C	(self)
20819269, ss3913641875	NC_000007.13:11380841:T:G	NC_000007.14:11341214:T:G	(self)

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

1 citation for rs14

PMID	Title	Author	Year	Journal
27064284	Hypomorphism of Fto and Rpgrip1l causes obesity in mice.	Stratigopoulos G et al.	2016	The Journal of clinical investigation

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

rs14