Name: rs34192432
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.

rs34192432

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:41632550 (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: A=0.249715 (66097/264690, TOPMED)
A=0.245184 (34286/139838, GnomAD)
A=0.29909 (8451/28256, 14KJPN) (+ 14 more)
A=0.25998 (4911/18890, ALFA)
A=0.29950 (5019/16758, 8.3KJPN)
A=0.2773 (1776/6404, 1000G_30x)
A=0.2839 (1422/5008, 1000G)
A=0.2533 (1135/4480, Estonian)
A=0.2683 (1034/3854, ALSPAC)
A=0.2667 (989/3708, TWINSUK)
A=0.3532 (1035/2930, KOREAN)
A=0.259 (258/998, GoNL)
A=0.290 (174/600, NorthernSweden)
T=0.405 (120/296, SGDP_PRJ)
A=0.324 (70/216, Qatari)
A=0.35 (14/40, GENOME_DK)
T=0.41 (9/22, 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	T=0.74002	A=0.25998
European	Sub	14286	T=0.72449	A=0.27551
African	Sub	2946	T=0.8323	A=0.1677
African Others	Sub	114	T=0.842	A=0.158
African American	Sub	2832	T=0.8319	A=0.1681
Asian	Sub	112	T=0.670	A=0.330
East Asian	Sub	86	T=0.65	A=0.35
Other Asian	Sub	26	T=0.73	A=0.27
Latin American 1	Sub	146	T=0.767	A=0.233
Latin American 2	Sub	610	T=0.679	A=0.321
South Asian	Sub	98	T=0.61	A=0.39
Other	Sub	692	T=0.746	A=0.254

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.750285	A=0.249715
gnomAD - Genomes	Global	Study-wide	139838	T=0.754816	A=0.245184
gnomAD - Genomes	European	Sub	75782	T=0.72243	A=0.27757
gnomAD - Genomes	African	Sub	41880	T=0.84374	A=0.15626
gnomAD - Genomes	American	Sub	13604	T=0.70126	A=0.29874
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.7042	A=0.2958
gnomAD - Genomes	East Asian	Sub	3114	T=0.6487	A=0.3513
gnomAD - Genomes	Other	Sub	2142	T=0.7348	A=0.2652
14KJPN	JAPANESE	Study-wide	28256	T=0.70091	A=0.29909
Allele Frequency Aggregator	Total	Global	18890	T=0.74002	A=0.25998
Allele Frequency Aggregator	European	Sub	14286	T=0.72449	A=0.27551
Allele Frequency Aggregator	African	Sub	2946	T=0.8323	A=0.1677
Allele Frequency Aggregator	Other	Sub	692	T=0.746	A=0.254
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.679	A=0.321
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.767	A=0.233
Allele Frequency Aggregator	Asian	Sub	112	T=0.670	A=0.330
Allele Frequency Aggregator	South Asian	Sub	98	T=0.61	A=0.39
8.3KJPN	JAPANESE	Study-wide	16758	T=0.70050	A=0.29950
1000Genomes_30x	Global	Study-wide	6404	T=0.7227	A=0.2773
1000Genomes_30x	African	Sub	1786	T=0.8651	A=0.1349
1000Genomes_30x	Europe	Sub	1266	T=0.7393	A=0.2607
1000Genomes_30x	South Asian	Sub	1202	T=0.6015	A=0.3985
1000Genomes_30x	East Asian	Sub	1170	T=0.6641	A=0.3359
1000Genomes_30x	American	Sub	980	T=0.660	A=0.340
1000Genomes	Global	Study-wide	5008	T=0.7161	A=0.2839
1000Genomes	African	Sub	1322	T=0.8646	A=0.1354
1000Genomes	East Asian	Sub	1008	T=0.6627	A=0.3373
1000Genomes	Europe	Sub	1006	T=0.7276	A=0.2724
1000Genomes	South Asian	Sub	978	T=0.596	A=0.404
1000Genomes	American	Sub	694	T=0.663	A=0.337
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7467	A=0.2533
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7317	A=0.2683
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7333	A=0.2667
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6468	A=0.3532, C=0.0000, G=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.741	A=0.259
Northern Sweden	ACPOP	Study-wide	600	T=0.710	A=0.290
SGDP_PRJ	Global	Study-wide	296	T=0.405	A=0.595
Qatari	Global	Study-wide	216	T=0.676	A=0.324
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	A=0.35
Siberian	Global	Study-wide	22	T=0.41	A=0.59

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.41632550T>A
GRCh38.p14 chr 19	NC_000019.10:g.41632550T>C
GRCh38.p14 chr 19	NC_000019.10:g.41632550T>G
GRCh37.p13 chr 19 fix patch HG1350_HG959_PATCH	NW_004775434.1:g.201589T>A
GRCh37.p13 chr 19 fix patch HG1350_HG959_PATCH	NW_004775434.1:g.201589T>C
GRCh37.p13 chr 19 fix patch HG1350_HG959_PATCH	NW_004775434.1:g.201589T>G
GRCh38.p14 chr 19 alt locus HSCHR19_3_CTG3_1	NT_187620.1:g.49451A>T
GRCh38.p14 chr 19 alt locus HSCHR19_3_CTG3_1	NT_187620.1:g.49451A>G
GRCh38.p14 chr 19 alt locus HSCHR19_3_CTG3_1	NT_187620.1:g.49451A>C
GRCh37.p13 chr 19	NC_000019.9:g.42138918T>A
GRCh37.p13 chr 19	NC_000019.9:g.42138918T>C
GRCh37.p13 chr 19	NC_000019.9:g.42138918T>G

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 19	NC_000019.10:g.41632550=	NC_000019.10:g.41632550T>A	NC_000019.10:g.41632550T>C	NC_000019.10:g.41632550T>G
GRCh37.p13 chr 19 fix patch HG1350_HG959_PATCH	NW_004775434.1:g.201589=	NW_004775434.1:g.201589T>A	NW_004775434.1:g.201589T>C	NW_004775434.1:g.201589T>G
GRCh38.p14 chr 19 alt locus HSCHR19_3_CTG3_1	NT_187620.1:g.49451=	NT_187620.1:g.49451A>T	NT_187620.1:g.49451A>G	NT_187620.1:g.49451A>C
GRCh37.p13 chr 19	NC_000019.9:g.42138918=	NC_000019.9:g.42138918T>A	NC_000019.9:g.42138918T>C	NC_000019.9:g.42138918T>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#.

58 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41038569	Mar 13, 2006 (126)
2	HGSV	ss85435469	Dec 15, 2007 (130)
3	HUMANGENOME_JCVI	ss96307445	Feb 06, 2009 (130)
4	BUSHMAN	ss203758186	Jul 04, 2010 (132)
5	GMI	ss283214559	May 04, 2012 (137)
6	GMI	ss287384896	Apr 25, 2013 (138)
7	PJP	ss292179855	May 09, 2011 (134)
8	1000GENOMES	ss340471140	May 09, 2011 (134)
9	SSMP	ss661856604	Apr 25, 2013 (138)
10	EVA-GONL	ss994313784	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1081913683	Aug 21, 2014 (142)
12	1000GENOMES	ss1363221692	Aug 21, 2014 (142)
13	DDI	ss1428406667	Apr 09, 2015 (144)
14	EVA_GENOME_DK	ss1578645191	Apr 09, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1637996677	Apr 09, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1680990710	Apr 09, 2015 (144)
17	EVA_DECODE	ss1698367587	Apr 01, 2015 (144)
18	HAMMER_LAB	ss1809314150	Sep 11, 2015 (146)
19	WEILL_CORNELL_DGM	ss1937807682	Feb 17, 2016 (147)
20	GENOMED	ss1968646060	Sep 28, 2016 (149)
21	JJLAB	ss2029683237	Sep 28, 2016 (149)
22	USC_VALOUEV	ss2158224536	Oct 12, 2018 (152)
23	HUMAN_LONGEVITY	ss2225866233	Dec 20, 2016 (150)
24	SYSTEMSBIOZJU	ss2629338770	Oct 12, 2018 (152)
25	GRF	ss2702835578	Oct 12, 2018 (152)
26	GNOMAD	ss2963031164	Oct 12, 2018 (152)
27	SWEGEN	ss3017496753	Oct 12, 2018 (152)
28	BIOINF_KMB_FNS_UNIBA	ss3028673074	Nov 08, 2017 (151)
29	CSHL	ss3352309442	Oct 12, 2018 (152)
30	URBANLAB	ss3650921073	Oct 12, 2018 (152)
31	EGCUT_WGS	ss3684258858	Jul 13, 2019 (153)
32	EVA_DECODE	ss3702796387	Jul 13, 2019 (153)
33	ACPOP	ss3743051484	Jul 13, 2019 (153)
34	EVA	ss3756081711	Jul 13, 2019 (153)
35	PACBIO	ss3788535087	Jul 13, 2019 (153)
36	PACBIO	ss3793444840	Jul 13, 2019 (153)
37	PACBIO	ss3798331673	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3821329254	Jul 13, 2019 (153)
39	EVA	ss3835469207	Apr 27, 2020 (154)
40	EVA	ss3841356995	Apr 27, 2020 (154)
41	EVA	ss3846862937	Apr 27, 2020 (154)
42	SGDP_PRJ	ss3888248303	Apr 27, 2020 (154)
43	KRGDB	ss3938366583	Apr 27, 2020 (154)
44	VINODS	ss4033872384	Apr 27, 2021 (155)
45	GNOMAD	ss4331487047	Apr 27, 2021 (155)
46	TOPMED	ss5075304721	Apr 27, 2021 (155)
47	TOMMO_GENOMICS	ss5227828410	Apr 27, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5307300327	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5499817081	Oct 13, 2022 (156)
50	EVA	ss5512106732	Oct 13, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5613053719	Oct 13, 2022 (156)
52	SANFORD_IMAGENETICS	ss5662421733	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5786484364	Oct 13, 2022 (156)
54	YY_MCH	ss5817614742	Oct 13, 2022 (156)
55	EVA	ss5840570119	Oct 13, 2022 (156)
56	EVA	ss5852295812	Oct 13, 2022 (156)
57	EVA	ss5928159803	Oct 13, 2022 (156)
58	EVA	ss5953834672	Oct 13, 2022 (156)
59	1000Genomes	NC_000019.9 - 42138918	Oct 12, 2018 (152)
60	1000Genomes_30x	NC_000019.10 - 41632550	Oct 13, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 42138918	Oct 12, 2018 (152)
62	Genetic variation in the Estonian population	NC_000019.9 - 42138918	Oct 12, 2018 (152)
63	The Danish reference pan genome	NC_000019.9 - 42138918	Apr 27, 2020 (154)
64	gnomAD - Genomes	NC_000019.10 - 41632550	Apr 27, 2021 (155)
65	Genome of the Netherlands Release 5	NC_000019.9 - 42138918	Apr 27, 2020 (154)
66	KOREAN population from KRGDB	NC_000019.9 - 42138918	Apr 27, 2020 (154)
67	Northern Sweden	NC_000019.9 - 42138918	Jul 13, 2019 (153)
68	Qatari	NC_000019.9 - 42138918	Apr 27, 2020 (154)
69	SGDP_PRJ	NC_000019.9 - 42138918	Apr 27, 2020 (154)
70	Siberian	NC_000019.9 - 42138918	Apr 27, 2020 (154)
71	8.3KJPN	NC_000019.9 - 42138918	Apr 27, 2021 (155)
72	14KJPN	NC_000019.10 - 41632550	Oct 13, 2022 (156)
73	TopMed	NC_000019.10 - 41632550	Apr 27, 2021 (155)
74	UK 10K study - Twins	NC_000019.9 - 42138918	Oct 12, 2018 (152)
75	ALFA	NC_000019.10 - 41632550	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)
rs61031652	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85435469, ss203758186, ss283214559, ss287384896, ss292179855, ss1698367587	NC_000019.8:46830757:T:A	NC_000019.10:41632549:T:A	(self)
76631077, 42441845, 29997106, 4827444, 18906453, 45543977, 16336349, 19849604, 40265283, 10740890, 85797717, 42441845, ss340471140, ss661856604, ss994313784, ss1081913683, ss1363221692, ss1428406667, ss1578645191, ss1637996677, ss1680990710, ss1809314150, ss1937807682, ss1968646060, ss2029683237, ss2158224536, ss2629338770, ss2702835578, ss2963031164, ss3017496753, ss3352309442, ss3684258858, ss3743051484, ss3756081711, ss3788535087, ss3793444840, ss3798331673, ss3835469207, ss3841356995, ss3888248303, ss3938366583, ss5227828410, ss5512106732, ss5662421733, ss5840570119, ss5953834672	NC_000019.9:42138917:T:A	NC_000019.10:41632549:T:A	(self)
100579654, 540460722, 120321468, 290850385, 11484331567, ss2225866233, ss3028673074, ss3650921073, ss3702796387, ss3821329254, ss3846862937, ss4331487047, ss5075304721, ss5307300327, ss5499817081, ss5613053719, ss5786484364, ss5817614742, ss5852295812, ss5928159803	NC_000019.10:41632549:T:A	NC_000019.10:41632549:T:A	(self)
ss41038569, ss96307445	NT_011109.16:14407135:T:A	NC_000019.10:41632549:T:A	(self)
ss4033872384	NT_187620.1:49450:A:T	NC_000019.10:41632549:T:A	(self)
45543977, ss3938366583	NC_000019.9:42138917:T:C	NC_000019.10:41632549:T:C	(self)
45543977, ss3938366583	NC_000019.9:42138917:T:G	NC_000019.10:41632549: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 rs34192432

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

rs34192432