Name: rs2237914
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.

rs2237914

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:17954574 (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: C=0.372118 (98496/264690, TOPMED)
C=0.371766 (52074/140072, GnomAD)
T=0.44324 (12525/28258, 14KJPN) (+ 19 more)
C=0.33346 (8215/24636, ALFA)
T=0.44409 (7442/16758, 8.3KJPN)
C=0.3637 (2329/6404, 1000G_30x)
C=0.3618 (1812/5008, 1000G)
C=0.4134 (1852/4480, Estonian)
C=0.3822 (1473/3854, ALSPAC)
C=0.3854 (1429/3708, TWINSUK)
T=0.4529 (1327/2930, KOREAN)
C=0.3658 (692/1892, HapMap)
T=0.4378 (802/1832, Korea1K)
C=0.386 (385/998, GoNL)
C=0.463 (290/626, Chileans)
C=0.405 (243/600, NorthernSweden)
T=0.359 (120/334, SGDP_PRJ)
C=0.366 (79/216, Qatari)
C=0.416 (89/214, Vietnamese)
C=0.32 (24/76, Ancient Sardinia)
T=0.40 (19/48, Siberian)
C=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SERGEF : Intron 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	24636	T=0.66654	C=0.33346, G=0.00000
European	Sub	16770	T=0.65158	C=0.34842, G=0.00000
African	Sub	3708	T=0.8136	C=0.1864, G=0.0000
African Others	Sub	118	T=0.839	C=0.161, G=0.000
African American	Sub	3590	T=0.8128	C=0.1872, G=0.0000
Asian	Sub	92	T=0.61	C=0.39, G=0.00
East Asian	Sub	46	T=0.54	C=0.46, G=0.00
Other Asian	Sub	46	T=0.67	C=0.33, G=0.00
Latin American 1	Sub	226	T=0.704	C=0.296, G=0.000
Latin American 2	Sub	2390	T=0.5615	C=0.4385, G=0.0000
South Asian	Sub	58	T=0.93	C=0.07, G=0.00
Other	Sub	1392	T=0.6221	C=0.3779, G=0.0000

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=0.627882	C=0.372118
gnomAD - Genomes	Global	Study-wide	140072	T=0.628234	C=0.371766
gnomAD - Genomes	European	Sub	75854	T=0.59910	C=0.40090
gnomAD - Genomes	African	Sub	41968	T=0.71686	C=0.28314
gnomAD - Genomes	American	Sub	13652	T=0.58336	C=0.41664
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4708	C=0.5292
gnomAD - Genomes	East Asian	Sub	3124	T=0.5208	C=0.4792
gnomAD - Genomes	Other	Sub	2152	T=0.6106	C=0.3894
14KJPN	JAPANESE	Study-wide	28258	T=0.44324	C=0.55676
Allele Frequency Aggregator	Total	Global	24636	T=0.66654	C=0.33346, G=0.00000
Allele Frequency Aggregator	European	Sub	16770	T=0.65158	C=0.34842, G=0.00000
Allele Frequency Aggregator	African	Sub	3708	T=0.8136	C=0.1864, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2390	T=0.5615	C=0.4385, G=0.0000
Allele Frequency Aggregator	Other	Sub	1392	T=0.6221	C=0.3779, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	226	T=0.704	C=0.296, G=0.000
Allele Frequency Aggregator	Asian	Sub	92	T=0.61	C=0.39, G=0.00
Allele Frequency Aggregator	South Asian	Sub	58	T=0.93	C=0.07, G=0.00
8.3KJPN	JAPANESE	Study-wide	16758	T=0.44409	C=0.55591
1000Genomes_30x	Global	Study-wide	6404	T=0.6363	C=0.3637
1000Genomes_30x	African	Sub	1786	T=0.7312	C=0.2688
1000Genomes_30x	Europe	Sub	1266	T=0.6019	C=0.3981
1000Genomes_30x	South Asian	Sub	1202	T=0.7371	C=0.2629
1000Genomes_30x	East Asian	Sub	1170	T=0.4923	C=0.5077
1000Genomes_30x	American	Sub	980	T=0.556	C=0.444
1000Genomes	Global	Study-wide	5008	T=0.6382	C=0.3618
1000Genomes	African	Sub	1322	T=0.7375	C=0.2625
1000Genomes	East Asian	Sub	1008	T=0.4871	C=0.5129
1000Genomes	Europe	Sub	1006	T=0.6054	C=0.3946
1000Genomes	South Asian	Sub	978	T=0.740	C=0.260
1000Genomes	American	Sub	694	T=0.572	C=0.428
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5866	C=0.4134
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6178	C=0.3822
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6146	C=0.3854
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4529	A=0.0000, C=0.5471
HapMap	Global	Study-wide	1892	T=0.6342	C=0.3658
HapMap	American	Sub	770	T=0.600	C=0.400
HapMap	African	Sub	692	T=0.734	C=0.266
HapMap	Asian	Sub	254	T=0.445	C=0.555
HapMap	Europe	Sub	176	T=0.665	C=0.335
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4378	C=0.5622
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.614	C=0.386
Chileans	Chilean	Study-wide	626	T=0.537	C=0.463
Northern Sweden	ACPOP	Study-wide	600	T=0.595	C=0.405
SGDP_PRJ	Global	Study-wide	334	T=0.359	C=0.641
Qatari	Global	Study-wide	216	T=0.634	C=0.366
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.584	C=0.416
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	T=0.68	C=0.32
Siberian	Global	Study-wide	48	T=0.40	C=0.60
The Danish reference pan genome	Danish	Study-wide	40	T=0.55	C=0.45

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 11	NC_000011.10:g.17954574T>A
GRCh38.p14 chr 11	NC_000011.10:g.17954574T>C
GRCh38.p14 chr 11	NC_000011.10:g.17954574T>G
GRCh37.p13 chr 11	NC_000011.9:g.17976121T>A
GRCh37.p13 chr 11	NC_000011.9:g.17976121T>C
GRCh37.p13 chr 11	NC_000011.9:g.17976121T>G

Gene: SERGEF, secretion regulating guanine nucleotide exchange factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERGEF transcript variant 1	NM_012139.4:c.1011+4896A>T	N/A	Intron Variant
SERGEF transcript variant 2	NR_104040.2:n.	N/A	Intron Variant
SERGEF transcript variant 3	NR_104041.2: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 11	NC_000011.10:g.17954574=	NC_000011.10:g.17954574T>A	NC_000011.10:g.17954574T>C	NC_000011.10:g.17954574T>G
GRCh37.p13 chr 11	NC_000011.9:g.17976121=	NC_000011.9:g.17976121T>A	NC_000011.9:g.17976121T>C	NC_000011.9:g.17976121T>G
SERGEF transcript	NM_012139.2:c.1011+4896=	NM_012139.2:c.1011+4896A>T	NM_012139.2:c.1011+4896A>G	NM_012139.2:c.1011+4896A>C
SERGEF transcript variant 1	NM_012139.4:c.1011+4896=	NM_012139.4:c.1011+4896A>T	NM_012139.4:c.1011+4896A>G	NM_012139.4:c.1011+4896A>C
SERGEF transcript variant X1	XM_005252852.1:c.669+4896=	XM_005252852.1:c.669+4896A>T	XM_005252852.1:c.669+4896A>G	XM_005252852.1:c.669+4896A>C
SERGEF transcript variant X2	XM_005252853.1:c.669+4896=	XM_005252853.1:c.669+4896A>T	XM_005252853.1:c.669+4896A>G	XM_005252853.1:c.669+4896A>C
SERGEF transcript variant X3	XM_005252854.1:c.669+4896=	XM_005252854.1:c.669+4896A>T	XM_005252854.1:c.669+4896A>G	XM_005252854.1:c.669+4896A>C
SERGEF transcript variant X4	XM_005252855.1:c.844+34023=	XM_005252855.1:c.844+34023A>T	XM_005252855.1:c.844+34023A>G	XM_005252855.1:c.844+34023A>C
SERGEF transcript variant X5	XM_005252856.1:c.669+4896=	XM_005252856.1:c.669+4896A>T	XM_005252856.1:c.669+4896A>G	XM_005252856.1:c.669+4896A>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#.

76 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3192720	Aug 15, 2001 (98)
2	PERLEGEN	ss24597080	Sep 20, 2004 (123)
3	ILLUMINA	ss65775986	Oct 15, 2006 (127)
4	AFFY	ss65927875	Nov 30, 2006 (127)
5	AFFY	ss66110863	Nov 30, 2006 (127)
6	ILLUMINA	ss74856724	Dec 07, 2007 (129)
7	AFFY	ss76090764	Dec 07, 2007 (129)
8	KRIBB_YJKIM	ss81732972	Dec 14, 2007 (130)
9	HGSV	ss83323472	Dec 15, 2007 (130)
10	BGI	ss102943334	Dec 01, 2009 (131)
11	1000GENOMES	ss110094321	Jan 24, 2009 (130)
12	1000GENOMES	ss114272065	Jan 25, 2009 (130)
13	GMI	ss155985635	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss169218273	Jul 04, 2010 (132)
15	AFFY	ss172471029	Jul 04, 2010 (132)
16	ILLUMINA	ss173202294	Jul 04, 2010 (132)
17	BUSHMAN	ss202445344	Jul 04, 2010 (132)
18	1000GENOMES	ss225117574	Jul 14, 2010 (132)
19	1000GENOMES	ss235465801	Jul 15, 2010 (132)
20	1000GENOMES	ss242115439	Jul 15, 2010 (132)
21	GMI	ss280903282	May 04, 2012 (137)
22	GMI	ss286325695	Apr 25, 2013 (138)
23	ILLUMINA	ss537059319	Sep 08, 2015 (146)
24	TISHKOFF	ss562416528	Apr 25, 2013 (138)
25	SSMP	ss657838463	Apr 25, 2013 (138)
26	EVA-GONL	ss988260251	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1077539368	Aug 21, 2014 (142)
28	1000GENOMES	ss1340312484	Aug 21, 2014 (142)
29	DDI	ss1426552554	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1575555540	Apr 01, 2015 (144)
31	EVA_DECODE	ss1597938457	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1626095397	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1669089430	Apr 01, 2015 (144)
34	EVA_SVP	ss1713237894	Apr 01, 2015 (144)
35	WEILL_CORNELL_DGM	ss1931621162	Feb 12, 2016 (147)
36	GENOMED	ss1967304931	Jul 19, 2016 (147)
37	JJLAB	ss2026554850	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2154842949	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2180591767	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2627747309	Nov 08, 2017 (151)
41	GRF	ss2699116259	Nov 08, 2017 (151)
42	GNOMAD	ss2896881466	Nov 08, 2017 (151)
43	SWEGEN	ss3007676657	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3027073626	Nov 08, 2017 (151)
45	CSHL	ss3349476816	Nov 08, 2017 (151)
46	ILLUMINA	ss3626611607	Oct 12, 2018 (152)
47	ILLUMINA	ss3637894259	Oct 12, 2018 (152)
48	ILLUMINA	ss3642893705	Oct 12, 2018 (152)
49	EGCUT_WGS	ss3675076850	Jul 13, 2019 (153)
50	EVA_DECODE	ss3691309384	Jul 13, 2019 (153)
51	ACPOP	ss3737963015	Jul 13, 2019 (153)
52	EVA	ss3749003154	Jul 13, 2019 (153)
53	PACBIO	ss3786881329	Jul 13, 2019 (153)
54	PACBIO	ss3792032832	Jul 13, 2019 (153)
55	PACBIO	ss3796914915	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3814349588	Jul 13, 2019 (153)
57	EVA	ss3832503916	Apr 26, 2020 (154)
58	SGDP_PRJ	ss3875746252	Apr 26, 2020 (154)
59	KRGDB	ss3923986289	Apr 26, 2020 (154)
60	KOGIC	ss3969303928	Apr 26, 2020 (154)
61	EVA	ss3985521625	Apr 26, 2021 (155)
62	EVA	ss4017526247	Apr 26, 2021 (155)
63	TOPMED	ss4876918058	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5200899358	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5286570367	Oct 16, 2022 (156)
66	EVA	ss5398052276	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5481856367	Oct 16, 2022 (156)
68	EVA	ss5510267205	Oct 16, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5581781624	Oct 16, 2022 (156)
70	SANFORD_IMAGENETICS	ss5650731935	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5747714533	Oct 16, 2022 (156)
72	YY_MCH	ss5812170104	Oct 16, 2022 (156)
73	EVA	ss5836328691	Oct 16, 2022 (156)
74	EVA	ss5849878770	Oct 16, 2022 (156)
75	EVA	ss5919026346	Oct 16, 2022 (156)
76	EVA	ss5942041972	Oct 16, 2022 (156)
77	1000Genomes	NC_000011.9 - 17976121	Oct 12, 2018 (152)
78	1000Genomes_30x	NC_000011.10 - 17954574	Oct 16, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 17976121	Oct 12, 2018 (152)
80	Chileans	NC_000011.9 - 17976121	Apr 26, 2020 (154)
81	Genetic variation in the Estonian population	NC_000011.9 - 17976121	Oct 12, 2018 (152)
82	The Danish reference pan genome	NC_000011.9 - 17976121	Apr 26, 2020 (154)
83	gnomAD - Genomes	NC_000011.10 - 17954574	Apr 26, 2021 (155)
84	Genome of the Netherlands Release 5	NC_000011.9 - 17976121	Apr 26, 2020 (154)
85	HapMap	NC_000011.10 - 17954574	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000011.9 - 17976121	Apr 26, 2020 (154)
87	Korean Genome Project	NC_000011.10 - 17954574	Apr 26, 2020 (154)
88	Northern Sweden	NC_000011.9 - 17976121	Jul 13, 2019 (153)
89	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 17976121	Apr 26, 2021 (155)
90	Qatari	NC_000011.9 - 17976121	Apr 26, 2020 (154)
91	SGDP_PRJ	NC_000011.9 - 17976121	Apr 26, 2020 (154)
92	Siberian	NC_000011.9 - 17976121	Apr 26, 2020 (154)
93	8.3KJPN	NC_000011.9 - 17976121	Apr 26, 2021 (155)
94	14KJPN	NC_000011.10 - 17954574	Oct 16, 2022 (156)
95	TopMed	NC_000011.10 - 17954574	Apr 26, 2021 (155)
96	UK 10K study - Twins	NC_000011.9 - 17976121	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000011.9 - 17976121	Jul 13, 2019 (153)
98	ALFA	NC_000011.10 - 17954574	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)
rs17793895	Oct 08, 2004 (123)
rs57841566	Feb 27, 2009 (130)
rs60955611	May 26, 2008 (130)
rs118054293	Aug 16, 2010 (132)
rs386562125	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
31163683, ss3923986289	NC_000011.9:17976120:T:A	NC_000011.10:17954573:T:A	(self)
ss83323472, ss110094321, ss114272065, ss169218273, ss202445344, ss280903282, ss286325695, ss1597938457, ss1713237894, ss3642893705	NC_000011.8:17932696:T:C	NC_000011.10:17954573:T:C	(self)
52802079, 29332010, 69944, 20815098, 2463935, 13077980, 31163683, 11247880, 747552, 13663092, 27763232, 7359303, 58868665, 29332010, 6511158, ss225117574, ss235465801, ss242115439, ss537059319, ss562416528, ss657838463, ss988260251, ss1077539368, ss1340312484, ss1426552554, ss1575555540, ss1626095397, ss1669089430, ss1931621162, ss1967304931, ss2026554850, ss2154842949, ss2627747309, ss2699116259, ss2896881466, ss3007676657, ss3349476816, ss3626611607, ss3637894259, ss3675076850, ss3737963015, ss3749003154, ss3786881329, ss3792032832, ss3796914915, ss3832503916, ss3875746252, ss3923986289, ss3985521625, ss4017526247, ss5200899358, ss5398052276, ss5510267205, ss5650731935, ss5836328691, ss5942041972	NC_000011.9:17976120:T:C	NC_000011.10:17954573:T:C	(self)
69307559, 372762371, 560469, 25681929, 81551637, 92463714, 273001758, ss2180591767, ss3027073626, ss3691309384, ss3814349588, ss3969303928, ss4876918058, ss5286570367, ss5481856367, ss5581781624, ss5747714533, ss5812170104, ss5849878770, ss5919026346	NC_000011.10:17954573:T:C	NC_000011.10:17954573:T:C	(self)
ss3192720, ss24597080, ss65775986, ss65927875, ss66110863, ss74856724, ss76090764, ss81732972, ss102943334, ss155985635, ss172471029, ss173202294	NT_009237.18:17916120:T:C	NC_000011.10:17954573:T:C	(self)
273001758	NC_000011.10:17954573:T:G	NC_000011.10:17954573: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 rs2237914

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

rs2237914