Name: rs2401192
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.

rs2401192

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:43046584 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.08411 (1409/16752, 8.3KJPN)
A=0.08947 (1493/16688, ALFA)
A=0.0020 (13/6404, 1000G_30x) (+ 12 more)
A=0.1759 (881/5008, 1000G)
A=0.3171 (1416/4466, Estonian)
A=0.3064 (1181/3854, ALSPAC)
A=0.2977 (1104/3708, TWINSUK)
A=0.0969 (283/2920, KOREAN)
A=0.0006 (1/1810, Korea1K)
A=0.322 (321/998, GoNL)
A=0.334 (200/598, NorthernSweden)
A=0.157 (34/216, Qatari)
G=0.469 (76/162, SGDP_PRJ)
A=0.33 (13/40, GENOME_DK)
G=0.38 (10/26, 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	16688	G=0.91053	A=0.08947
European	Sub	12200	G=0.88213	A=0.11787
African	Sub	2864	G=0.9976	A=0.0024
African Others	Sub	108	G=1.000	A=0.000
African American	Sub	2756	G=0.9975	A=0.0025
Asian	Sub	108	G=1.000	A=0.000
East Asian	Sub	84	G=1.00	A=0.00
Other Asian	Sub	24	G=1.00	A=0.00
Latin American 1	Sub	146	G=1.000	A=0.000
Latin American 2	Sub	610	G=1.000	A=0.000
South Asian	Sub	94	G=1.00	A=0.00
Other	Sub	666	G=0.928	A=0.072

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
8.3KJPN	JAPANESE	Study-wide	16752	G=0.91589	A=0.08411
Allele Frequency Aggregator	Total	Global	16688	G=0.91053	A=0.08947
Allele Frequency Aggregator	European	Sub	12200	G=0.88213	A=0.11787
Allele Frequency Aggregator	African	Sub	2864	G=0.9976	A=0.0024
Allele Frequency Aggregator	Other	Sub	666	G=0.928	A=0.072
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	108	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	94	G=1.00	A=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.9980	A=0.0020
1000Genomes_30x	African	Sub	1786	G=0.9938	A=0.0062
1000Genomes_30x	Europe	Sub	1266	G=0.9992	A=0.0008
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.9991	A=0.0009
1000Genomes_30x	American	Sub	980	G=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.8241	A=0.1759
1000Genomes	African	Sub	1322	G=0.8480	A=0.1520
1000Genomes	East Asian	Sub	1008	G=0.9226	A=0.0774
1000Genomes	Europe	Sub	1006	G=0.7197	A=0.2803
1000Genomes	South Asian	Sub	978	G=0.768	A=0.232
1000Genomes	American	Sub	694	G=0.866	A=0.134
Genetic variation in the Estonian population	Estonian	Study-wide	4466	G=0.6829	A=0.3171
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6936	A=0.3064
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7023	A=0.2977
KOREAN population from KRGDB	KOREAN	Study-wide	2920	G=0.9031	A=0.0969
Korean Genome Project	KOREAN	Study-wide	1810	G=0.9994	A=0.0006
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.678	A=0.322
Northern Sweden	ACPOP	Study-wide	598	G=0.666	A=0.334
Qatari	Global	Study-wide	216	G=0.843	A=0.157
SGDP_PRJ	Global	Study-wide	162	G=0.469	A=0.531
The Danish reference pan genome	Danish	Study-wide	40	G=0.68	A=0.33
Siberian	Global	Study-wide	26	G=0.38	A=0.62

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 21	NC_000021.9:g.43046584G>A
GRCh37.p13 chr 21	NC_000021.8:g.44466694G>A

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	G=	A
GRCh38.p14 chr 21	NC_000021.9:g.43046584=	NC_000021.9:g.43046584G>A
GRCh37.p13 chr 21	NC_000021.8:g.44466694=	NC_000021.8:g.44466694G>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#.

54 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3365417	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss19492686	Feb 27, 2004 (120)
3	ABI	ss44242453	Mar 13, 2006 (126)
4	HGSV	ss78835923	Dec 06, 2007 (129)
5	BCMHGSC_JDW	ss91853596	Mar 24, 2008 (129)
6	1000GENOMES	ss112511582	Jan 25, 2009 (130)
7	ILLUMINA-UK	ss117542436	Feb 14, 2009 (130)
8	ENSEMBL	ss133100950	Dec 01, 2009 (131)
9	ENSEMBL	ss138324352	Dec 01, 2009 (131)
10	BUSHMAN	ss204031564	Jul 04, 2010 (132)
11	1000GENOMES	ss212093709	Jul 14, 2010 (132)
12	1000GENOMES	ss228589497	Jul 14, 2010 (132)
13	1000GENOMES	ss238000977	Jul 15, 2010 (132)
14	1000GENOMES	ss244135426	Jul 15, 2010 (132)
15	BL	ss255997415	May 09, 2011 (134)
16	GMI	ss287539437	Apr 25, 2013 (138)
17	PJP	ss292719495	May 09, 2011 (134)
18	TISHKOFF	ss566525709	Apr 25, 2013 (138)
19	SSMP	ss662437245	Apr 25, 2013 (138)
20	EVA-GONL	ss995164504	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1082534381	Aug 21, 2014 (142)
22	1000GENOMES	ss1366455734	Aug 21, 2014 (142)
23	DDI	ss1429198704	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1579681878	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1639652475	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1682646508	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1809708585	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1938715125	Feb 12, 2016 (147)
29	JJLAB	ss2030132567	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2158737766	Dec 20, 2016 (150)
31	SYSTEMSBIOZJU	ss2629565253	Nov 08, 2017 (151)
32	GRF	ss2704468600	Nov 08, 2017 (151)
33	SWEGEN	ss3018962071	Nov 08, 2017 (151)
34	CSHL	ss3352741172	Nov 08, 2017 (151)
35	EGCUT_WGS	ss3685539007	Jul 13, 2019 (153)
36	ACPOP	ss3743771698	Jul 13, 2019 (153)
37	EVA	ss3759162049	Jul 13, 2019 (153)
38	PACBIO	ss3788776439	Jul 13, 2019 (153)
39	PACBIO	ss3793649254	Jul 13, 2019 (153)
40	PACBIO	ss3798535564	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3822327816	Jul 13, 2019 (153)
42	EVA	ss3835898767	Apr 27, 2020 (154)
43	EVA	ss3841577244	Apr 27, 2020 (154)
44	SGDP_PRJ	ss3890096259	Apr 27, 2020 (154)
45	KRGDB	ss3940442302	Apr 27, 2020 (154)
46	KOGIC	ss3983177992	Apr 27, 2020 (154)
47	TOMMO_GENOMICS	ss5231718898	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5310366462	Oct 16, 2022 (156)
49	EVA	ss5440160277	Oct 16, 2022 (156)
50	EVA	ss5512335923	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5617576214	Oct 16, 2022 (156)
52	SANFORD_IMAGENETICS	ss5664100789	Oct 16, 2022 (156)
53	EVA	ss5839101885	Oct 16, 2022 (156)
54	EVA	ss5959000096	Oct 16, 2022 (156)
55	1000Genomes	NC_000021.8 - 44466694	Oct 12, 2018 (152)
56	1000Genomes_30x	NC_000021.9 - 43046584	Oct 16, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 44466694	Oct 12, 2018 (152)
58	Genetic variation in the Estonian population	NC_000021.8 - 44466694	Oct 12, 2018 (152)
59	The Danish reference pan genome	NC_000021.8 - 44466694	Apr 27, 2020 (154)
60	Genome of the Netherlands Release 5	NC_000021.8 - 44466694	Apr 27, 2020 (154)
61	KOREAN population from KRGDB	NC_000021.8 - 44466694	Apr 27, 2020 (154)
62	Korean Genome Project	NC_000021.9 - 43046584	Apr 27, 2020 (154)
63	Northern Sweden	NC_000021.8 - 44466694	Jul 13, 2019 (153)
64	Qatari	NC_000021.8 - 44466694	Apr 27, 2020 (154)
65	SGDP_PRJ	NC_000021.8 - 44466694	Apr 27, 2020 (154)
66	Siberian	NC_000021.8 - 44466694	Apr 27, 2020 (154)
67	8.3KJPN	NC_000021.8 - 44466694	Apr 26, 2021 (155)
68	UK 10K study - Twins	NC_000021.8 - 44466694	Oct 12, 2018 (152)
69	ALFA	NC_000021.9 - 43046584	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78835923, ss91853596, ss112511582, ss117542436, ss204031564, ss212093709, ss255997415, ss287539437, ss292719495	NC_000021.7:43339762:G:A	NC_000021.9:43046583:G:A	(self)
79982018, 44269616, 31277255, 5846817, 19720938, 47619696, 17056563, 20757047, 42113239, 11254120, 89688205, 44269616, ss228589497, ss238000977, ss244135426, ss566525709, ss662437245, ss995164504, ss1082534381, ss1366455734, ss1429198704, ss1579681878, ss1639652475, ss1682646508, ss1809708585, ss1938715125, ss2030132567, ss2158737766, ss2629565253, ss2704468600, ss3018962071, ss3352741172, ss3685539007, ss3743771698, ss3759162049, ss3788776439, ss3793649254, ss3798535564, ss3835898767, ss3841577244, ss3890096259, ss3940442302, ss5231718898, ss5440160277, ss5512335923, ss5664100789, ss5839101885, ss5959000096	NC_000021.8:44466693:G:A	NC_000021.9:43046583:G:A	(self)
105102149, 39555993, 7541103262, ss3822327816, ss3983177992, ss5310366462, ss5617576214	NC_000021.9:43046583:G:A	NC_000021.9:43046583:G:A	(self)
ss3365417, ss44242453, ss133100950, ss138324352	NT_011515.12:1461134:G:A	NC_000021.9:43046583:G:A	(self)
ss19492686	NT_030188.3:1216019:G:A	NC_000021.9:43046583:G:A	(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 rs2401192

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

rs2401192