Name: rs742914
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.

rs742914

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:40803609 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.329767 (87286/264690, TOPMED)
C=0.323234 (45245/139976, GnomAD)
C=0.32727 (9248/28258, 14KJPN) (+ 16 more)
C=0.31403 (5932/18890, ALFA)
C=0.32709 (5482/16760, 8.3KJPN)
C=0.3504 (2244/6404, 1000G_30x)
C=0.3496 (1751/5008, 1000G)
C=0.3315 (1485/4480, Estonian)
C=0.2937 (1132/3854, ALSPAC)
C=0.2810 (1042/3708, TWINSUK)
C=0.3543 (1038/2930, KOREAN)
C=0.298 (297/998, GoNL)
C=0.253 (152/600, NorthernSweden)
A=0.343 (120/350, SGDP_PRJ)
C=0.366 (118/322, HapMap)
C=0.366 (79/216, Qatari)
C=0.257 (55/214, Vietnamese)
C=0.25 (10/40, GENOME_DK)
A=0.47 (14/30, 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	18890	A=0.68597	C=0.31403
European	Sub	14286	A=0.70447	C=0.29553
African	Sub	2946	A=0.6035	C=0.3965
African Others	Sub	114	A=0.596	C=0.404
African American	Sub	2832	A=0.6038	C=0.3962
Asian	Sub	112	A=0.670	C=0.330
East Asian	Sub	86	A=0.66	C=0.34
Other Asian	Sub	26	A=0.69	C=0.31
Latin American 1	Sub	146	A=0.678	C=0.322
Latin American 2	Sub	610	A=0.664	C=0.336
South Asian	Sub	98	A=0.62	C=0.38
Other	Sub	692	A=0.688	C=0.312

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=0.670233	C=0.329767
gnomAD - Genomes	Global	Study-wide	139976	A=0.676766	C=0.323234
gnomAD - Genomes	European	Sub	75824	A=0.71960	C=0.28040
gnomAD - Genomes	African	Sub	41912	A=0.59856	C=0.40144
gnomAD - Genomes	American	Sub	13644	A=0.65699	C=0.34301
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.7489	C=0.2511
gnomAD - Genomes	East Asian	Sub	3126	A=0.6881	C=0.3119
gnomAD - Genomes	Other	Sub	2148	A=0.6881	C=0.3119
14KJPN	JAPANESE	Study-wide	28258	A=0.67273	C=0.32727
Allele Frequency Aggregator	Total	Global	18890	A=0.68597	C=0.31403
Allele Frequency Aggregator	European	Sub	14286	A=0.70447	C=0.29553
Allele Frequency Aggregator	African	Sub	2946	A=0.6035	C=0.3965
Allele Frequency Aggregator	Other	Sub	692	A=0.688	C=0.312
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.664	C=0.336
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.678	C=0.322
Allele Frequency Aggregator	Asian	Sub	112	A=0.670	C=0.330
Allele Frequency Aggregator	South Asian	Sub	98	A=0.62	C=0.38
8.3KJPN	JAPANESE	Study-wide	16760	A=0.67291	C=0.32709
1000Genomes_30x	Global	Study-wide	6404	A=0.6496	C=0.3504
1000Genomes_30x	African	Sub	1786	A=0.5689	C=0.4311
1000Genomes_30x	Europe	Sub	1266	A=0.7251	C=0.2749
1000Genomes_30x	South Asian	Sub	1202	A=0.6240	C=0.3760
1000Genomes_30x	East Asian	Sub	1170	A=0.7043	C=0.2957
1000Genomes_30x	American	Sub	980	A=0.665	C=0.335
1000Genomes	Global	Study-wide	5008	A=0.6504	C=0.3496
1000Genomes	African	Sub	1322	A=0.5696	C=0.4304
1000Genomes	East Asian	Sub	1008	A=0.6974	C=0.3026
1000Genomes	Europe	Sub	1006	A=0.7276	C=0.2724
1000Genomes	South Asian	Sub	978	A=0.625	C=0.375
1000Genomes	American	Sub	694	A=0.660	C=0.340
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6685	C=0.3315
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7063	C=0.2937
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7190	C=0.2810
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6457	C=0.3543
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.702	C=0.298
Northern Sweden	ACPOP	Study-wide	600	A=0.747	C=0.253
SGDP_PRJ	Global	Study-wide	350	A=0.343	C=0.657
HapMap	Global	Study-wide	322	A=0.634	C=0.366
HapMap	African	Sub	118	A=0.585	C=0.415
HapMap	American	Sub	114	A=0.693	C=0.307
HapMap	Asian	Sub	90	A=0.62	C=0.38
Qatari	Global	Study-wide	216	A=0.634	C=0.366
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.743	C=0.257
The Danish reference pan genome	Danish	Study-wide	40	A=0.75	C=0.25
Siberian	Global	Study-wide	30	A=0.47	C=0.53

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 20	NC_000020.11:g.40803609A>C
GRCh37.p13 chr 20	NC_000020.10:g.39432249A>C

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=	C
GRCh38.p14 chr 20	NC_000020.11:g.40803609=	NC_000020.11:g.40803609A>C
GRCh37.p13 chr 20	NC_000020.10:g.39432249=	NC_000020.10:g.39432249A>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#.

65 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss91883	Oct 05, 2000 (86)
2	TSC-CSHL	ss5462570	Oct 08, 2002 (108)
3	WI_SSAHASNP	ss6639669	Feb 20, 2003 (111)
4	SC_SNP	ss8334486	Apr 21, 2003 (114)
5	WI_SSAHASNP	ss12493382	Jul 11, 2003 (116)
6	CSHL-HAPMAP	ss17698814	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss20127636	Feb 27, 2004 (120)
8	SSAHASNP	ss21755304	Apr 05, 2004 (121)
9	ABI	ss41387912	Mar 14, 2006 (126)
10	BGI	ss103755168	Feb 23, 2009 (131)
11	1000GENOMES	ss113332649	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss117544979	Feb 14, 2009 (130)
13	ENSEMBL	ss135715122	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss168133750	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss169605470	Jul 04, 2010 (132)
16	BUSHMAN	ss203889120	Jul 04, 2010 (132)
17	1000GENOMES	ss228354042	Jul 14, 2010 (132)
18	1000GENOMES	ss237832615	Jul 15, 2010 (132)
19	1000GENOMES	ss244003387	Jul 15, 2010 (132)
20	GMI	ss283381804	May 04, 2012 (137)
21	PJP	ss292652302	May 09, 2011 (134)
22	TISHKOFF	ss566250784	Apr 25, 2013 (138)
23	SSMP	ss662132216	Apr 25, 2013 (138)
24	EVA-GONL	ss994726607	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1082207931	Aug 21, 2014 (142)
26	1000GENOMES	ss1364801023	Aug 21, 2014 (142)
27	DDI	ss1429055679	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1579507717	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1638794795	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1681788828	Apr 01, 2015 (144)
31	EVA_DECODE	ss1698786543	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1809503648	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1938241324	Feb 12, 2016 (147)
34	GENOMED	ss1969133364	Jul 19, 2016 (147)
35	JJLAB	ss2029900510	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2158467286	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2242819510	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2629443482	Nov 08, 2017 (151)
39	GRF	ss2704158875	Nov 08, 2017 (151)
40	GNOMAD	ss2967514905	Nov 08, 2017 (151)
41	SWEGEN	ss3018195207	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3028783010	Nov 08, 2017 (151)
43	CSHL	ss3352513797	Nov 08, 2017 (151)
44	URBANLAB	ss3651021304	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3684878163	Jul 13, 2019 (153)
46	EVA_DECODE	ss3706959856	Jul 13, 2019 (153)
47	ACPOP	ss3743398717	Jul 13, 2019 (153)
48	EVA	ss3758649991	Jul 13, 2019 (153)
49	KHV_HUMAN_GENOMES	ss3821813925	Jul 13, 2019 (153)
50	EVA	ss3835675494	Apr 27, 2020 (154)
51	SGDP_PRJ	ss3889117213	Apr 27, 2020 (154)
52	KRGDB	ss3939406987	Apr 27, 2020 (154)
53	TOPMED	ss5088897397	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5229684642	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5308825935	Oct 13, 2022 (156)
56	EVA	ss5437456646	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5501100770	Oct 13, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5615299919	Oct 13, 2022 (156)
59	SANFORD_IMAGENETICS	ss5663227796	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5789497637	Oct 13, 2022 (156)
61	YY_MCH	ss5818051049	Oct 13, 2022 (156)
62	EVA	ss5845703285	Oct 13, 2022 (156)
63	EVA	ss5853142815	Oct 13, 2022 (156)
64	EVA	ss5923457488	Oct 13, 2022 (156)
65	EVA	ss5958143910	Oct 13, 2022 (156)
66	1000Genomes	NC_000020.10 - 39432249	Oct 12, 2018 (152)
67	1000Genomes_30x	NC_000020.11 - 40803609	Oct 13, 2022 (156)
68	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 39432249	Oct 12, 2018 (152)
69	Genetic variation in the Estonian population	NC_000020.10 - 39432249	Oct 12, 2018 (152)
70	The Danish reference pan genome	NC_000020.10 - 39432249	Apr 27, 2020 (154)
71	gnomAD - Genomes	NC_000020.11 - 40803609	Apr 26, 2021 (155)
72	Genome of the Netherlands Release 5	NC_000020.10 - 39432249	Apr 27, 2020 (154)
73	HapMap	NC_000020.11 - 40803609	Apr 27, 2020 (154)
74	KOREAN population from KRGDB	NC_000020.10 - 39432249	Apr 27, 2020 (154)
75	Northern Sweden	NC_000020.10 - 39432249	Jul 13, 2019 (153)
76	Qatari	NC_000020.10 - 39432249	Apr 27, 2020 (154)
77	SGDP_PRJ	NC_000020.10 - 39432249	Apr 27, 2020 (154)
78	Siberian	NC_000020.10 - 39432249	Apr 27, 2020 (154)
79	8.3KJPN	NC_000020.10 - 39432249	Apr 26, 2021 (155)
80	14KJPN	NC_000020.11 - 40803609	Oct 13, 2022 (156)
81	TopMed	NC_000020.11 - 40803609	Apr 26, 2021 (155)
82	UK 10K study - Twins	NC_000020.10 - 39432249	Oct 12, 2018 (152)
83	A Vietnamese Genetic Variation Database	NC_000020.10 - 39432249	Jul 13, 2019 (153)
84	ALFA	NC_000020.11 - 40803609	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)
rs74273508	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss113332649, ss117544979, ss168133750, ss169605470, ss203889120, ss283381804, ss292652302, ss1698786543	NC_000020.9:38865662:A:C	NC_000020.11:40803608:A:C	(self)
78265240, 43323917, 30616411, 5672656, 19299372, 46584381, 16683582, 20283246, 41134193, 10983640, 87653949, 43323917, 9558587, ss228354042, ss237832615, ss244003387, ss566250784, ss662132216, ss994726607, ss1082207931, ss1364801023, ss1429055679, ss1579507717, ss1638794795, ss1681788828, ss1809503648, ss1938241324, ss1969133364, ss2029900510, ss2158467286, ss2629443482, ss2704158875, ss2967514905, ss3018195207, ss3352513797, ss3684878163, ss3743398717, ss3758649991, ss3835675494, ss3889117213, ss3939406987, ss5229684642, ss5437456646, ss5663227796, ss5845703285, ss5958143910	NC_000020.10:39432248:A:C	NC_000020.11:40803608:A:C	(self)
102825854, 552097946, 2121771, 123334741, 364006342, 5891335810, ss2242819510, ss3028783010, ss3651021304, ss3706959856, ss3821813925, ss5088897397, ss5308825935, ss5501100770, ss5615299919, ss5789497637, ss5818051049, ss5853142815, ss5923457488	NC_000020.11:40803608:A:C	NC_000020.11:40803608:A:C	(self)
ss12493382, ss17698814, ss20127636, ss21755304	NT_011362.8:4485163:A:C	NC_000020.11:40803608:A:C	(self)
ss91883, ss5462570, ss6639669, ss8334486, ss41387912, ss103755168, ss135715122	NT_011362.10:9628340:A:C	NC_000020.11:40803608:A: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 rs742914

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

rs742914