Name: rs710274
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.

rs710274

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:97027576 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.207186 (54840/264690, TOPMED)
A=0.00000 (0/28258, 14KJPN)
A=0.00000 (0/16760, 8.3KJPN) (+ 15 more)
A=0.3979 (3133/7874, ALFA)
A=0.1207 (773/6404, 1000G_30x)
A=0.1214 (608/5008, 1000G)
A=0.3469 (1554/4480, Estonian)
A=0.3173 (1223/3854, ALSPAC)
A=0.3150 (1168/3708, TWINSUK)
A=0.0003 (1/2930, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.333 (332/998, GoNL)
A=0.275 (165/600, NorthernSweden)
A=0.097 (52/538, SGDP_PRJ)
A=0.130 (28/216, Qatari)
A=0.014 (3/214, Vietnamese)
A=0.19 (10/52, Siberian)
A=0.23 (9/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105370647 : 2KB Upstream 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	7874	A=0.3979	G=0.6021, T=0.0000
European	Sub	7456	A=0.4034	G=0.5966, T=0.0000
African	Sub	138	A=0.123	G=0.877, T=0.000
African Others	Sub	6	A=0.0	G=1.0, T=0.0
African American	Sub	132	A=0.129	G=0.871, T=0.000
Asian	Sub	4	A=0.0	G=1.0, T=0.0
East Asian	Sub	2	A=0.0	G=1.0, T=0.0
Other Asian	Sub	2	A=0.0	G=1.0, T=0.0
Latin American 1	Sub	4	A=1.0	G=0.0, T=0.0
Latin American 2	Sub	20	A=1.00	G=0.00, T=0.00
South Asian	Sub	6	A=0.5	G=0.5, T=0.0
Other	Sub	246	A=0.329	G=0.671, T=0.000

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	A=0.207186	G=0.792814
14KJPN	JAPANESE	Study-wide	28258	A=0.00000	G=1.00000
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00000	G=1.00000
Allele Frequency Aggregator	Total	Global	7874	A=0.3979	G=0.6021, T=0.0000
Allele Frequency Aggregator	European	Sub	7456	A=0.4034	G=0.5966, T=0.0000
Allele Frequency Aggregator	Other	Sub	246	A=0.329	G=0.671, T=0.000
Allele Frequency Aggregator	African	Sub	138	A=0.123	G=0.877, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	20	A=1.00	G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	6	A=0.5	G=0.5, T=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	A=1.0	G=0.0, T=0.0
Allele Frequency Aggregator	Asian	Sub	4	A=0.0	G=1.0, T=0.0
1000Genomes_30x	Global	Study-wide	6404	A=0.1207	G=0.8793
1000Genomes_30x	African	Sub	1786	A=0.0336	G=0.9664
1000Genomes_30x	Europe	Sub	1266	A=0.3365	G=0.6635
1000Genomes_30x	South Asian	Sub	1202	A=0.1123	G=0.8877
1000Genomes_30x	East Asian	Sub	1170	A=0.0034	G=0.9966
1000Genomes_30x	American	Sub	980	A=0.151	G=0.849
1000Genomes	Global	Study-wide	5008	A=0.1214	G=0.8786
1000Genomes	African	Sub	1322	A=0.0378	G=0.9622
1000Genomes	East Asian	Sub	1008	A=0.0030	G=0.9970
1000Genomes	Europe	Sub	1006	A=0.3449	G=0.6551
1000Genomes	South Asian	Sub	978	A=0.105	G=0.895
1000Genomes	American	Sub	694	A=0.151	G=0.849
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3469	G=0.6531
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3173	G=0.6827
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3150	G=0.6850
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0003	G=0.9997, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0005	G=0.9995
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.333	G=0.667
Northern Sweden	ACPOP	Study-wide	600	A=0.275	G=0.725
SGDP_PRJ	Global	Study-wide	538	A=0.097	G=0.901, T=0.002
Qatari	Global	Study-wide	216	A=0.130	G=0.870
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.014	G=0.986
Siberian	Global	Study-wide	52	A=0.19	G=0.81
The Danish reference pan genome	Danish	Study-wide	40	A=0.23	G=0.78

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 14	NC_000014.9:g.97027576A>G
GRCh38.p14 chr 14	NC_000014.9:g.97027576A>T
GRCh37.p13 chr 14	NC_000014.8:g.97493913A>G
GRCh37.p13 chr 14	NC_000014.8:g.97493913A>T

Gene: LOC105370647, uncharacterized LOC105370647 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370647 transcript	XR_944180.4:n.	N/A	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	A=	G	T
GRCh38.p14 chr 14	NC_000014.9:g.97027576=	NC_000014.9:g.97027576A>G	NC_000014.9:g.97027576A>T
GRCh37.p13 chr 14	NC_000014.8:g.97493913=	NC_000014.8:g.97493913A>G	NC_000014.8:g.97493913A>T

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#.

82 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss134914	Oct 04, 2000 (86)
2	KWOK	ss1245871	Oct 04, 2000 (86)
3	KWOK	ss2004759	Oct 18, 2000 (87)
4	SC_JCM	ss2512545	Nov 09, 2000 (92)
5	SC_JCM	ss3703346	Sep 28, 2001 (100)
6	TSC-CSHL	ss5191279	Oct 08, 2002 (108)
7	WI_SSAHASNP	ss14378446	Dec 05, 2003 (119)
8	CSHL-HAPMAP	ss16641280	Feb 27, 2004 (120)
9	SSAHASNP	ss21196853	Apr 05, 2004 (121)
10	HGSV	ss77710692	Dec 07, 2007 (129)
11	HGSV	ss78620856	Dec 07, 2007 (129)
12	HGSV	ss80459694	Dec 16, 2007 (130)
13	BGI	ss106409909	Feb 06, 2009 (130)
14	1000GENOMES	ss108596057	Jan 23, 2009 (130)
15	1000GENOMES	ss113769327	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss118737813	Feb 14, 2009 (130)
17	ENSEMBL	ss143972955	Dec 01, 2009 (131)
18	GMI	ss156179225	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss168564719	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss170507874	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss171568516	Jul 04, 2010 (132)
22	BUSHMAN	ss200470046	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207047526	Jul 04, 2010 (132)
24	1000GENOMES	ss226743591	Jul 14, 2010 (132)
25	1000GENOMES	ss236670254	Jul 15, 2010 (132)
26	1000GENOMES	ss243079214	Jul 15, 2010 (132)
27	BL	ss255231640	May 09, 2011 (134)
28	GMI	ss282127973	May 04, 2012 (137)
29	GMI	ss286898498	Apr 25, 2013 (138)
30	PJP	ss291660856	May 09, 2011 (134)
31	TISHKOFF	ss564297427	Apr 25, 2013 (138)
32	SSMP	ss659994471	Apr 25, 2013 (138)
33	EVA-GONL	ss991487433	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1079913157	Aug 21, 2014 (142)
35	1000GENOMES	ss1352291325	Aug 21, 2014 (142)
36	DDI	ss1427523548	Apr 01, 2015 (144)
37	EVA_GENOME_DK	ss1577454335	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1632430343	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1675424376	Apr 01, 2015 (144)
40	EVA_DECODE	ss1695503725	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1808065130	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1934858575	Feb 12, 2016 (147)
43	GENOMED	ss1968039297	Jul 19, 2016 (147)
44	JJLAB	ss2028214490	Sep 14, 2016 (149)
45	USC_VALOUEV	ss2156599298	Dec 20, 2016 (150)
46	HUMAN_LONGEVITY	ss2204643664	Dec 20, 2016 (150)
47	SYSTEMSBIOZJU	ss2628596834	Nov 08, 2017 (151)
48	GRF	ss2701035469	Nov 08, 2017 (151)
49	GNOMAD	ss2931319446	Nov 08, 2017 (151)
50	SWEGEN	ss3012725485	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3027935738	Nov 08, 2017 (151)
52	CSHL	ss3350958804	Nov 08, 2017 (151)
53	URBANLAB	ss3650273150	Oct 12, 2018 (152)
54	EGCUT_WGS	ss3679992780	Jul 13, 2019 (153)
55	EVA_DECODE	ss3697320221	Jul 13, 2019 (153)
56	ACPOP	ss3740669737	Jul 13, 2019 (153)
57	EVA	ss3752726020	Jul 13, 2019 (153)
58	PACBIO	ss3787757238	Jul 13, 2019 (153)
59	PACBIO	ss3792781461	Jul 13, 2019 (153)
60	PACBIO	ss3797666015	Jul 13, 2019 (153)
61	KHV_HUMAN_GENOMES	ss3818048753	Jul 13, 2019 (153)
62	EVA	ss3834087227	Apr 27, 2020 (154)
63	EVA	ss3840635910	Apr 27, 2020 (154)
64	EVA	ss3846126381	Apr 27, 2020 (154)
65	SGDP_PRJ	ss3882184993	Apr 27, 2020 (154)
66	KRGDB	ss3931269509	Apr 27, 2020 (154)
67	KOGIC	ss3975551732	Apr 27, 2020 (154)
68	TOPMED	ss4981649491	Apr 26, 2021 (155)
69	TOMMO_GENOMICS	ss5214684763	Apr 26, 2021 (155)
70	1000G_HIGH_COVERAGE	ss5297351290	Oct 16, 2022 (156)
71	EVA	ss5417320746	Oct 16, 2022 (156)
72	HUGCELL_USP	ss5491289719	Oct 16, 2022 (156)
73	EVA	ss5511355005	Oct 16, 2022 (156)
74	1000G_HIGH_COVERAGE	ss5598197650	Oct 16, 2022 (156)
75	SANFORD_IMAGENETICS	ss5656862998	Oct 16, 2022 (156)
76	TOMMO_GENOMICS	ss5767904469	Oct 16, 2022 (156)
77	YY_MCH	ss5815033473	Oct 16, 2022 (156)
78	EVA	ss5841557621	Oct 16, 2022 (156)
79	EVA	ss5851175934	Oct 16, 2022 (156)
80	EVA	ss5902644215	Oct 16, 2022 (156)
81	EVA	ss5948329303	Oct 16, 2022 (156)
82	EVA	ss5980847425	Oct 16, 2022 (156)
83	1000Genomes	NC_000014.8 - 97493913	Oct 12, 2018 (152)
84	1000Genomes_30x	NC_000014.9 - 97027576	Oct 16, 2022 (156)
85	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 97493913	Oct 12, 2018 (152)
86	Genetic variation in the Estonian population	NC_000014.8 - 97493913	Oct 12, 2018 (152)
87	The Danish reference pan genome	NC_000014.8 - 97493913	Apr 27, 2020 (154)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 460413238 (NC_000014.9:97027575:A:G 108282/139986) Row 460413239 (NC_000014.9:97027575:A:T 6/140034)	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 460413238 (NC_000014.9:97027575:A:G 108282/139986) Row 460413239 (NC_000014.9:97027575:A:T 6/140034)	-	Apr 26, 2021 (155)
90	Genome of the Netherlands Release 5	NC_000014.8 - 97493913	Apr 27, 2020 (154)
91	KOREAN population from KRGDB	NC_000014.8 - 97493913	Apr 27, 2020 (154)
92	Korean Genome Project	NC_000014.9 - 97027576	Apr 27, 2020 (154)
93	Northern Sweden	NC_000014.8 - 97493913	Jul 13, 2019 (153)
94	Qatari	NC_000014.8 - 97493913	Apr 27, 2020 (154)
95	SGDP_PRJ	NC_000014.8 - 97493913	Apr 27, 2020 (154)
96	Siberian	NC_000014.8 - 97493913	Apr 27, 2020 (154)
97	8.3KJPN	NC_000014.8 - 97493913	Apr 26, 2021 (155)
98	14KJPN	NC_000014.9 - 97027576	Oct 16, 2022 (156)
99	TopMed	NC_000014.9 - 97027576	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000014.8 - 97493913	Oct 12, 2018 (152)
101	A Vietnamese Genetic Variation Database	NC_000014.8 - 97493913	Jul 13, 2019 (153)
102	ALFA	NC_000014.9 - 97027576	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)
rs1683138	Jan 18, 2001 (92)
rs61539493	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77710692, ss78620856, ss80459694, ss108596057, ss113769327, ss118737813, ss168564719, ss170507874, ss171568516, ss200470046, ss207047526, ss255231640, ss282127973, ss286898498, ss291660856, ss1695503725	NC_000014.7:96563665:A:G	NC_000014.9:97027575:A:G	(self)
65320437, 36309314, 25731028, 3739515, 16209250, 38446903, 13954602, 16900505, 34201973, 9115652, 72654070, 36309314, 8077994, ss226743591, ss236670254, ss243079214, ss564297427, ss659994471, ss991487433, ss1079913157, ss1352291325, ss1427523548, ss1577454335, ss1632430343, ss1675424376, ss1808065130, ss1934858575, ss1968039297, ss2028214490, ss2156599298, ss2628596834, ss2701035469, ss2931319446, ss3012725485, ss3350958804, ss3679992780, ss3740669737, ss3752726020, ss3787757238, ss3792781461, ss3797666015, ss3834087227, ss3840635910, ss3882184993, ss3931269509, ss5214684763, ss5417320746, ss5511355005, ss5656862998, ss5841557621, ss5948329303, ss5980847425	NC_000014.8:97493912:A:G	NC_000014.9:97027575:A:G	(self)
85723585, 31929733, 101741573, 197195150, 7810869875, ss2204643664, ss3027935738, ss3650273150, ss3697320221, ss3818048753, ss3846126381, ss3975551732, ss4981649491, ss5297351290, ss5491289719, ss5598197650, ss5767904469, ss5815033473, ss5851175934, ss5902644215	NC_000014.9:97027575:A:G	NC_000014.9:97027575:A:G	(self)
ss14378446, ss16641280, ss21196853	NT_026437.10:77413953:A:G	NC_000014.9:97027575:A:G	(self)
ss134914, ss1245871, ss2004759, ss2512545, ss3703346, ss5191279, ss106409909, ss143972955, ss156179225	NT_026437.12:78493912:A:G	NC_000014.9:97027575:A:G	(self)
38446903, 34201973, ss3882184993, ss3931269509	NC_000014.8:97493912:A:T	NC_000014.9:97027575:A:T	(self)
7810869875	NC_000014.9:97027575:A:T	NC_000014.9:97027575:A:T	(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 rs710274

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs710274