Name: rs11671119
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.

rs11671119

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:19175268 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.034416 (4827/140254, GnomAD)
T=0.02555 (1011/39568, ALFA)
T=0.26520 (7494/28258, 14KJPN) (+ 17 more)
T=0.26918 (4511/16758, 8.3KJPN)
T=0.0853 (546/6404, 1000G_30x)
T=0.0865 (433/5008, 1000G)
T=0.0208 (93/4480, Estonian)
T=0.0322 (124/3854, ALSPAC)
T=0.0272 (101/3708, TWINSUK)
T=0.2584 (757/2930, KOREAN)
T=0.2544 (466/1832, Korea1K)
T=0.0897 (134/1494, HapMap)
T=0.029 (29/998, GoNL)
T=0.088 (55/626, Chileans)
T=0.040 (24/600, NorthernSweden)
T=0.056 (12/216, Qatari)
T=0.318 (68/214, Vietnamese)
C=0.47 (31/66, SGDP_PRJ)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BORCS8-MEF2B : Intron Variant
Publications: 2 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	39568	C=0.97445	G=0.00000, T=0.02555
European	Sub	27362	C=0.97559	G=0.00000, T=0.02441
African	Sub	6368	C=0.9834	G=0.0000, T=0.0166
African Others	Sub	218	C=0.982	G=0.000, T=0.018
African American	Sub	6150	C=0.9834	G=0.0000, T=0.0166
Asian	Sub	138	C=0.906	G=0.000, T=0.094
East Asian	Sub	92	C=0.95	G=0.00, T=0.05
Other Asian	Sub	46	C=0.83	G=0.00, T=0.17
Latin American 1	Sub	300	C=0.973	G=0.000, T=0.027
Latin American 2	Sub	2794	C=0.9531	G=0.0000, T=0.0469
South Asian	Sub	108	C=0.981	G=0.000, T=0.019
Other	Sub	2498	C=0.9668	G=0.0000, T=0.0332

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
gnomAD - Genomes	Global	Study-wide	140254	C=0.965584	T=0.034416
gnomAD - Genomes	European	Sub	75960	C=0.97138	T=0.02862
gnomAD - Genomes	African	Sub	42040	C=0.97536	T=0.02464
gnomAD - Genomes	American	Sub	13658	C=0.95893	T=0.04107
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.9506	T=0.0494
gnomAD - Genomes	East Asian	Sub	3126	C=0.7396	T=0.2604
gnomAD - Genomes	Other	Sub	2150	C=0.9637	T=0.0363
Allele Frequency Aggregator	Total	Global	39568	C=0.97445	G=0.00000, T=0.02555
Allele Frequency Aggregator	European	Sub	27362	C=0.97559	G=0.00000, T=0.02441
Allele Frequency Aggregator	African	Sub	6368	C=0.9834	G=0.0000, T=0.0166
Allele Frequency Aggregator	Latin American 2	Sub	2794	C=0.9531	G=0.0000, T=0.0469
Allele Frequency Aggregator	Other	Sub	2498	C=0.9668	G=0.0000, T=0.0332
Allele Frequency Aggregator	Latin American 1	Sub	300	C=0.973	G=0.000, T=0.027
Allele Frequency Aggregator	Asian	Sub	138	C=0.906	G=0.000, T=0.094
Allele Frequency Aggregator	South Asian	Sub	108	C=0.981	G=0.000, T=0.019
14KJPN	JAPANESE	Study-wide	28258	C=0.73480	T=0.26520
8.3KJPN	JAPANESE	Study-wide	16758	C=0.73082	T=0.26918
1000Genomes_30x	Global	Study-wide	6404	C=0.9147	T=0.0853
1000Genomes_30x	African	Sub	1786	C=0.9765	T=0.0235
1000Genomes_30x	Europe	Sub	1266	C=0.9810	T=0.0190
1000Genomes_30x	South Asian	Sub	1202	C=0.8802	T=0.1198
1000Genomes_30x	East Asian	Sub	1170	C=0.7462	T=0.2538
1000Genomes_30x	American	Sub	980	C=0.960	T=0.040
1000Genomes	Global	Study-wide	5008	C=0.9135	T=0.0865
1000Genomes	African	Sub	1322	C=0.9803	T=0.0197
1000Genomes	East Asian	Sub	1008	C=0.7569	T=0.2431
1000Genomes	Europe	Sub	1006	C=0.9831	T=0.0169
1000Genomes	South Asian	Sub	978	C=0.880	T=0.120
1000Genomes	American	Sub	694	C=0.960	T=0.040
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9792	T=0.0208
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9678	T=0.0322
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9728	T=0.0272
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7416	T=0.2584
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7456	T=0.2544
HapMap	Global	Study-wide	1494	C=0.9103	T=0.0897
HapMap	American	Sub	662	C=0.890	T=0.110
HapMap	African	Sub	406	C=0.985	T=0.015
HapMap	Asian	Sub	250	C=0.788	T=0.212
HapMap	Europe	Sub	176	C=0.989	T=0.011
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.971	T=0.029
Chileans	Chilean	Study-wide	626	C=0.912	T=0.088
Northern Sweden	ACPOP	Study-wide	600	C=0.960	T=0.040
Qatari	Global	Study-wide	216	C=0.944	T=0.056
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.682	T=0.318
SGDP_PRJ	Global	Study-wide	66	C=0.47	T=0.53
Siberian	Global	Study-wide	8	C=0.5	T=0.5

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 19	NC_000019.10:g.19175268C>G
GRCh38.p14 chr 19	NC_000019.10:g.19175268C>T
GRCh37.p13 chr 19	NC_000019.9:g.19286077C>G
GRCh37.p13 chr 19	NC_000019.9:g.19286077C>T

Gene: BORCS8-MEF2B, BORCS8-MEF2B readthrough (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BORCS8-MEF2B transcript variant 1	NM_005919.4:c.-30+5418G>C	N/A	Intron Variant
BORCS8-MEF2B transcript variant 2	NR_027307.2:n.	N/A	Intron Variant
BORCS8-MEF2B transcript variant 3	NR_027308.2: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	C=	G	T
GRCh38.p14 chr 19	NC_000019.10:g.19175268=	NC_000019.10:g.19175268C>G	NC_000019.10:g.19175268C>T
GRCh37.p13 chr 19	NC_000019.9:g.19286077=	NC_000019.9:g.19286077C>G	NC_000019.9:g.19286077C>T
BORCS8-MEF2B transcript variant 1	NM_005919.3:c.-30+5418=	NM_005919.3:c.-30+5418G>C	NM_005919.3:c.-30+5418G>A
BORCS8-MEF2B transcript variant 1	NM_005919.4:c.-30+5418=	NM_005919.4:c.-30+5418G>C	NM_005919.4:c.-30+5418G>A

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#.

66 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16802319	Feb 28, 2004 (120)
2	PERLEGEN	ss24064865	Sep 20, 2004 (123)
3	ABI	ss44176312	Mar 14, 2006 (126)
4	AFFY	ss66067283	Nov 29, 2006 (127)
5	AFFY	ss75992864	Dec 06, 2007 (129)
6	KRIBB_YJKIM	ss82902366	Dec 14, 2007 (130)
7	BGI	ss103428692	Dec 01, 2009 (131)
8	GMI	ss155687650	Dec 01, 2009 (131)
9	AFFY	ss170128985	Jul 04, 2010 (132)
10	1000GENOMES	ss228070046	Jul 14, 2010 (132)
11	1000GENOMES	ss237623961	Jul 15, 2010 (132)
12	1000GENOMES	ss243841199	Jul 15, 2010 (132)
13	ILLUMINA	ss244273636	Jul 04, 2010 (132)
14	GMI	ss283147369	May 04, 2012 (137)
15	ILLUMINA	ss479961936	May 04, 2012 (137)
16	ILLUMINA	ss483802573	May 04, 2012 (137)
17	ILLUMINA	ss533427608	Sep 08, 2015 (146)
18	SSMP	ss661751524	Apr 25, 2013 (138)
19	ILLUMINA	ss778660852	Sep 08, 2015 (146)
20	ILLUMINA	ss781112129	Sep 08, 2015 (146)
21	ILLUMINA	ss834119016	Sep 08, 2015 (146)
22	EVA-GONL	ss994155154	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1081801637	Aug 21, 2014 (142)
24	1000GENOMES	ss1362615478	Aug 21, 2014 (142)
25	EVA_UK10K_ALSPAC	ss1637689600	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1680683633	Apr 01, 2015 (144)
27	EVA_DECODE	ss1698214611	Apr 01, 2015 (144)
28	EVA_SVP	ss1713654754	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1937642588	Feb 12, 2016 (147)
30	GENOMED	ss1968615932	Jul 19, 2016 (147)
31	JJLAB	ss2029594993	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2158123781	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2224819409	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2629295741	Nov 08, 2017 (151)
35	ILLUMINA	ss2633525718	Nov 08, 2017 (151)
36	GRF	ss2702727710	Nov 08, 2017 (151)
37	GNOMAD	ss2961240640	Nov 08, 2017 (151)
38	SWEGEN	ss3017216999	Nov 08, 2017 (151)
39	ILLUMINA	ss3021891520	Nov 08, 2017 (151)
40	ILLUMINA	ss3627905197	Oct 12, 2018 (152)
41	ILLUMINA	ss3631498131	Oct 12, 2018 (152)
42	ILLUMINA	ss3652316979	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3684037211	Jul 13, 2019 (153)
44	EVA_DECODE	ss3702486706	Jul 13, 2019 (153)
45	ACPOP	ss3742914948	Jul 13, 2019 (153)
46	EVA	ss3755890727	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3821144715	Jul 13, 2019 (153)
48	EVA	ss3835388463	Apr 27, 2020 (154)
49	SGDP_PRJ	ss3887912038	Apr 27, 2020 (154)
50	KRGDB	ss3937920325	Apr 27, 2020 (154)
51	KOGIC	ss3981006263	Apr 27, 2020 (154)
52	TOPMED	ss5070199804	Apr 27, 2021 (155)
53	TOPMED	ss5070199805	Apr 27, 2021 (155)
54	TOMMO_GENOMICS	ss5227083891	Apr 27, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5306746086	Oct 16, 2022 (156)
56	EVA	ss5315966566	Oct 16, 2022 (156)
57	EVA	ss5433986780	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5499340404	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5612243659	Oct 16, 2022 (156)
60	SANFORD_IMAGENETICS	ss5662112368	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5785484709	Oct 16, 2022 (156)
62	YY_MCH	ss5817467438	Oct 16, 2022 (156)
63	EVA	ss5840352275	Oct 16, 2022 (156)
64	EVA	ss5852231470	Oct 16, 2022 (156)
65	EVA	ss5927561393	Oct 16, 2022 (156)
66	EVA	ss5953529048	Oct 16, 2022 (156)
67	1000Genomes	NC_000019.9 - 19286077	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000019.10 - 19175268	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 19286077	Oct 12, 2018 (152)
70	Chileans	NC_000019.9 - 19286077	Apr 27, 2020 (154)
71	Genetic variation in the Estonian population	NC_000019.9 - 19286077	Oct 12, 2018 (152)
72	gnomAD - Genomes	NC_000019.10 - 19175268	Apr 27, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000019.9 - 19286077	Apr 27, 2020 (154)
74	HapMap	NC_000019.10 - 19175268	Apr 27, 2020 (154)
75	KOREAN population from KRGDB	NC_000019.9 - 19286077	Apr 27, 2020 (154)
76	Korean Genome Project	NC_000019.10 - 19175268	Apr 27, 2020 (154)
77	Northern Sweden	NC_000019.9 - 19286077	Jul 13, 2019 (153)
78	Qatari	NC_000019.9 - 19286077	Apr 27, 2020 (154)
79	SGDP_PRJ	NC_000019.9 - 19286077	Apr 27, 2020 (154)
80	Siberian	NC_000019.9 - 19286077	Apr 27, 2020 (154)
81	8.3KJPN	NC_000019.9 - 19286077	Apr 27, 2021 (155)
82	14KJPN	NC_000019.10 - 19175268	Oct 16, 2022 (156)
83	TopMed Submission ignored due to conflicting rows: Row 285745468 (NC_000019.10:19175267:C:G 1/264690) Row 285745469 (NC_000019.10:19175267:C:T 10586/264690)	-	Apr 27, 2021 (155)
84	TopMed Submission ignored due to conflicting rows: Row 285745468 (NC_000019.10:19175267:C:G 1/264690) Row 285745469 (NC_000019.10:19175267:C:T 10586/264690)	-	Apr 27, 2021 (155)
85	UK 10K study - Twins	NC_000019.9 - 19286077	Oct 12, 2018 (152)
86	A Vietnamese Genetic Variation Database	NC_000019.9 - 19286077	Jul 13, 2019 (153)
87	ALFA	NC_000019.10 - 19175268	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)
rs16995941	Oct 08, 2004 (123)
rs56835681	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3644588833, ss5070199804	NC_000019.10:19175267:C:G	NC_000019.10:19175267:C:G	(self)
ss283147369, ss483802573, ss1698214611, ss1713654754	NC_000019.8:19147076:C:T	NC_000019.10:19175267:C:T	(self)
76003203, 42101268, 203148, 29775459, 18755216, 45097719, 16199813, 19684510, 39929018, 10640135, 85053198, 42101268, 9303002, ss228070046, ss237623961, ss243841199, ss479961936, ss533427608, ss661751524, ss778660852, ss781112129, ss834119016, ss994155154, ss1081801637, ss1362615478, ss1637689600, ss1680683633, ss1937642588, ss1968615932, ss2029594993, ss2158123781, ss2629295741, ss2633525718, ss2702727710, ss2961240640, ss3017216999, ss3021891520, ss3627905197, ss3631498131, ss3652316979, ss3684037211, ss3742914948, ss3755890727, ss3835388463, ss3887912038, ss3937920325, ss5227083891, ss5315966566, ss5433986780, ss5662112368, ss5840352275, ss5953529048	NC_000019.9:19286076:C:T	NC_000019.10:19175267:C:T	(self)
99769594, 536041435, 1675875, 37384264, 119321813, 3644588833, ss2224819409, ss3702486706, ss3821144715, ss3981006263, ss5070199805, ss5306746086, ss5499340404, ss5612243659, ss5785484709, ss5817467438, ss5852231470, ss5927561393	NC_000019.10:19175267:C:T	NC_000019.10:19175267:C:T	(self)
ss16802319	NT_011295.10:10548878:C:T	NC_000019.10:19175267:C:T	(self)
ss24064865, ss44176312, ss66067283, ss75992864, ss82902366, ss103428692, ss155687650, ss170128985, ss244273636	NT_011295.11:10548878:C:T	NC_000019.10:19175267:C:T	(self)

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

2 citations for rs11671119

PMID	Title	Author	Year	Journal
25294186	Cohen's h for detection of disease association with rare genetic variants.	Wen SH et al.	2014	BMC genomics
26859814	Obsessive-compulsive symptoms in a large population-based twin-family sample are predicted by clinically based polygenic scores and by genome-wide SNPs.	den Braber A et al.	2016	Translational psychiatry

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

rs11671119