Name: rs2837450
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.

rs2837450

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:40140973 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.219000 (57967/264690, TOPMED)
C=0.222116 (31106/140044, GnomAD)
C=0.18533 (5237/28258, 14KJPN) (+ 17 more)
C=0.25754 (5430/21084, ALFA)
C=0.18550 (3109/16760, 8.3KJPN)
C=0.1933 (1238/6404, 1000G_30x)
C=0.1925 (964/5008, 1000G)
C=0.2839 (1272/4480, Estonian)
C=0.2929 (1129/3854, ALSPAC)
C=0.2888 (1071/3708, TWINSUK)
C=0.2666 (781/2930, KOREAN)
C=0.2013 (380/1888, HapMap)
C=0.2434 (446/1832, Korea1K)
C=0.313 (312/998, GoNL)
C=0.327 (196/600, NorthernSweden)
G=0.420 (95/226, SGDP_PRJ)
C=0.269 (58/216, Qatari)
C=0.217 (46/212, Vietnamese)
C=0.25 (10/40, GENOME_DK)
G=0.42 (11/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DSCAM : 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	21084	G=0.74246	C=0.25754
European	Sub	16442	G=0.71062	C=0.28938
African	Sub	2946	G=0.9284	C=0.0716
African Others	Sub	114	G=0.991	C=0.009
African American	Sub	2832	G=0.9258	C=0.0742
Asian	Sub	112	G=0.759	C=0.241
East Asian	Sub	86	G=0.76	C=0.24
Other Asian	Sub	26	G=0.77	C=0.23
Latin American 1	Sub	146	G=0.712	C=0.288
Latin American 2	Sub	610	G=0.680	C=0.320
South Asian	Sub	98	G=0.72	C=0.28
Other	Sub	730	G=0.767	C=0.233

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	G=0.781000	C=0.219000
gnomAD - Genomes	Global	Study-wide	140044	G=0.777884	C=0.222116
gnomAD - Genomes	European	Sub	75834	G=0.71364	C=0.28636
gnomAD - Genomes	African	Sub	41968	G=0.92182	C=0.07818
gnomAD - Genomes	American	Sub	13642	G=0.72783	C=0.27217
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7024	C=0.2976
gnomAD - Genomes	East Asian	Sub	3128	G=0.7075	C=0.2925
gnomAD - Genomes	Other	Sub	2152	G=0.7709	C=0.2291
14KJPN	JAPANESE	Study-wide	28258	G=0.81467	C=0.18533
Allele Frequency Aggregator	Total	Global	21084	G=0.74246	C=0.25754
Allele Frequency Aggregator	European	Sub	16442	G=0.71062	C=0.28938
Allele Frequency Aggregator	African	Sub	2946	G=0.9284	C=0.0716
Allele Frequency Aggregator	Other	Sub	730	G=0.767	C=0.233
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.680	C=0.320
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.712	C=0.288
Allele Frequency Aggregator	Asian	Sub	112	G=0.759	C=0.241
Allele Frequency Aggregator	South Asian	Sub	98	G=0.72	C=0.28
8.3KJPN	JAPANESE	Study-wide	16760	G=0.81450	C=0.18550
1000Genomes_30x	Global	Study-wide	6404	G=0.8067	C=0.1933
1000Genomes_30x	African	Sub	1786	G=0.9580	C=0.0420
1000Genomes_30x	Europe	Sub	1266	G=0.6967	C=0.3033
1000Genomes_30x	South Asian	Sub	1202	G=0.8012	C=0.1988
1000Genomes_30x	East Asian	Sub	1170	G=0.7735	C=0.2265
1000Genomes_30x	American	Sub	980	G=0.719	C=0.281
1000Genomes	Global	Study-wide	5008	G=0.8075	C=0.1925
1000Genomes	African	Sub	1322	G=0.9546	C=0.0454
1000Genomes	East Asian	Sub	1008	G=0.7778	C=0.2222
1000Genomes	Europe	Sub	1006	G=0.7028	C=0.2972
1000Genomes	South Asian	Sub	978	G=0.803	C=0.197
1000Genomes	American	Sub	694	G=0.729	C=0.271
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7161	C=0.2839
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7071	C=0.2929
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7112	C=0.2888
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7334	C=0.2666
HapMap	Global	Study-wide	1888	G=0.7987	C=0.2013
HapMap	American	Sub	768	G=0.733	C=0.267
HapMap	African	Sub	690	G=0.886	C=0.114
HapMap	Asian	Sub	254	G=0.811	C=0.189
HapMap	Europe	Sub	176	G=0.727	C=0.273
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7566	C=0.2434
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.687	C=0.313
Northern Sweden	ACPOP	Study-wide	600	G=0.673	C=0.327
SGDP_PRJ	Global	Study-wide	226	G=0.420	C=0.580
Qatari	Global	Study-wide	216	G=0.731	C=0.269
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.783	C=0.217
The Danish reference pan genome	Danish	Study-wide	40	G=0.75	C=0.25
Siberian	Global	Study-wide	26	G=0.42	C=0.58

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.40140973G>C
GRCh37.p13 chr 21	NC_000021.8:g.41512900G>C
GRCh38.p14 chr 21 fix patch HG2265_PATCH	NW_025791814.1:g.280627G>C

Gene: DSCAM, DS cell adhesion molecule (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSCAM transcript variant 2	NM_001271534.3:c.3406+158… NM_001271534.3:c.3406+1585C>G	N/A	Intron Variant
DSCAM transcript variant 1	NM_001389.5:c.3406+1585C>G	N/A	Intron Variant
DSCAM transcript variant 3	NR_073202.3:n.	N/A	Intron Variant
DSCAM transcript variant X1	XM_017028281.2:c.2698+158… XM_017028281.2:c.2698+1585C>G	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	G=	C
GRCh38.p14 chr 21	NC_000021.9:g.40140973=	NC_000021.9:g.40140973G>C
GRCh37.p13 chr 21	NC_000021.8:g.41512900=	NC_000021.8:g.41512900G>C
GRCh38.p14 chr 21 fix patch HG2265_PATCH	NW_025791814.1:g.280627=	NW_025791814.1:g.280627G>C
DSCAM transcript variant 2	NM_001271534.1:c.3406+1585=	NM_001271534.1:c.3406+1585C>G
DSCAM transcript variant 2	NM_001271534.3:c.3406+1585=	NM_001271534.3:c.3406+1585C>G
DSCAM transcript variant 1	NM_001389.3:c.3406+1585=	NM_001389.3:c.3406+1585C>G
DSCAM transcript variant 1	NM_001389.5:c.3406+1585=	NM_001389.5:c.3406+1585C>G
DSCAM transcript variant X1	XM_017028281.2:c.2698+1585=	XM_017028281.2:c.2698+1585C>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#.

83 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss4017794	Sep 28, 2001 (100)
2	ABI	ss44251608	Mar 14, 2006 (126)
3	AFFY	ss66351299	Dec 01, 2006 (127)
4	AFFY	ss76063046	Dec 08, 2007 (130)
5	KRIBB_YJKIM	ss81888205	Dec 15, 2007 (130)
6	HGSV	ss84019799	Dec 15, 2007 (130)
7	HUMANGENOME_JCVI	ss96170542	Feb 05, 2009 (130)
8	BGI	ss106214462	Feb 05, 2009 (130)
9	1000GENOMES	ss112486361	Jan 25, 2009 (130)
10	GMI	ss156926138	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss168062337	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss172051465	Jul 04, 2010 (132)
13	ILLUMINA	ss173489776	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss208789032	Jul 04, 2010 (132)
15	1000GENOMES	ss228574237	Jul 14, 2010 (132)
16	1000GENOMES	ss237989216	Jul 15, 2010 (132)
17	1000GENOMES	ss244126521	Jul 15, 2010 (132)
18	GMI	ss283548676	May 04, 2012 (137)
19	PJP	ss292714128	May 09, 2011 (134)
20	ILLUMINA	ss479164822	May 04, 2012 (137)
21	ILLUMINA	ss484272642	May 04, 2012 (137)
22	ILLUMINA	ss532760194	Sep 08, 2015 (146)
23	TISHKOFF	ss566507225	Apr 25, 2013 (138)
24	SSMP	ss662417823	Apr 25, 2013 (138)
25	ILLUMINA	ss779535654	Sep 08, 2015 (146)
26	ILLUMINA	ss780913280	Sep 08, 2015 (146)
27	ILLUMINA	ss835006289	Sep 08, 2015 (146)
28	EVA-GONL	ss995137032	Aug 21, 2014 (142)
29	JMKIDD_LAB	ss1082513810	Aug 21, 2014 (142)
30	1000GENOMES	ss1366359246	Aug 21, 2014 (142)
31	DDI	ss1429190170	Apr 01, 2015 (144)
32	EVA_GENOME_DK	ss1579670419	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1639600295	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1682594328	Apr 01, 2015 (144)
35	EVA_DECODE	ss1699208483	Apr 01, 2015 (144)
36	EVA_SVP	ss1713724942	Apr 01, 2015 (144)
37	WEILL_CORNELL_DGM	ss1938687127	Feb 12, 2016 (147)
38	GENOMED	ss1969229746	Jul 19, 2016 (147)
39	JJLAB	ss2030116677	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2158721535	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2245921772	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2629557715	Nov 08, 2017 (151)
43	ILLUMINA	ss2633851244	Nov 08, 2017 (151)
44	GRF	ss2704452643	Nov 08, 2017 (151)
45	GNOMAD	ss2971995780	Nov 08, 2017 (151)
46	AFFY	ss2985847061	Nov 08, 2017 (151)
47	SWEGEN	ss3018922014	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3028897789	Nov 08, 2017 (151)
49	CSHL	ss3352727481	Nov 08, 2017 (151)
50	ILLUMINA	ss3628485253	Oct 12, 2018 (152)
51	ILLUMINA	ss3631804686	Oct 12, 2018 (152)
52	ILLUMINA	ss3638369143	Oct 12, 2018 (152)
53	ILLUMINA	ss3642205612	Oct 12, 2018 (152)
54	URBANLAB	ss3651119757	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3685498930	Jul 13, 2019 (153)
56	EVA_DECODE	ss3707768500	Jul 13, 2019 (153)
57	ACPOP	ss3743748382	Jul 13, 2019 (153)
58	EVA	ss3759129930	Jul 13, 2019 (153)
59	PACBIO	ss3788768410	Jul 13, 2019 (153)
60	PACBIO	ss3793641827	Jul 13, 2019 (153)
61	PACBIO	ss3798528091	Jul 13, 2019 (153)
62	KHV_HUMAN_GENOMES	ss3822296631	Jul 13, 2019 (153)
63	EVA	ss3835884178	Apr 27, 2020 (154)
64	EVA	ss3841569549	Apr 27, 2020 (154)
65	EVA	ss3847083103	Apr 27, 2020 (154)
66	SGDP_PRJ	ss3890040506	Apr 27, 2020 (154)
67	KRGDB	ss3940385585	Apr 27, 2020 (154)
68	KOGIC	ss3983129924	Apr 27, 2020 (154)
69	EVA	ss4017869151	Apr 27, 2021 (155)
70	TOPMED	ss5102242912	Apr 27, 2021 (155)
71	TOMMO_GENOMICS	ss5231612743	Apr 27, 2021 (155)
72	1000G_HIGH_COVERAGE	ss5310281784	Oct 16, 2022 (156)
73	EVA	ss5316039675	Oct 16, 2022 (156)
74	EVA	ss5440003805	Oct 16, 2022 (156)
75	HUGCELL_USP	ss5502323752	Oct 16, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5617454224	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5664051117	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5792148397	Oct 16, 2022 (156)
79	YY_MCH	ss5818460086	Oct 16, 2022 (156)
80	EVA	ss5839066350	Oct 16, 2022 (156)
81	EVA	ss5853313456	Oct 16, 2022 (156)
82	EVA	ss5892430187	Oct 16, 2022 (156)
83	EVA	ss5958948525	Oct 16, 2022 (156)
84	1000Genomes	NC_000021.8 - 41512900	Oct 12, 2018 (152)
85	1000Genomes_30x	NC_000021.9 - 40140973	Oct 16, 2022 (156)
86	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 41512900	Oct 12, 2018 (152)
87	Genetic variation in the Estonian population	NC_000021.8 - 41512900	Oct 12, 2018 (152)
88	The Danish reference pan genome	NC_000021.8 - 41512900	Apr 27, 2020 (154)
89	gnomAD - Genomes	NC_000021.9 - 40140973	Apr 27, 2021 (155)
90	Genome of the Netherlands Release 5	NC_000021.8 - 41512900	Apr 27, 2020 (154)
91	HapMap	NC_000021.9 - 40140973	Apr 27, 2020 (154)
92	KOREAN population from KRGDB	NC_000021.8 - 41512900	Apr 27, 2020 (154)
93	Korean Genome Project	NC_000021.9 - 40140973	Apr 27, 2020 (154)
94	Northern Sweden	NC_000021.8 - 41512900	Jul 13, 2019 (153)
95	Qatari	NC_000021.8 - 41512900	Apr 27, 2020 (154)
96	SGDP_PRJ	NC_000021.8 - 41512900	Apr 27, 2020 (154)
97	Siberian	NC_000021.8 - 41512900	Apr 27, 2020 (154)
98	8.3KJPN	NC_000021.8 - 41512900	Apr 27, 2021 (155)
99	14KJPN	NC_000021.9 - 40140973	Oct 16, 2022 (156)
100	TopMed	NC_000021.9 - 40140973	Apr 27, 2021 (155)
101	UK 10K study - Twins	NC_000021.8 - 41512900	Oct 12, 2018 (152)
102	A Vietnamese Genetic Variation Database	NC_000021.8 - 41512900	Jul 13, 2019 (153)
103	ALFA	NC_000021.9 - 40140973	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)
rs56512538	May 25, 2008 (130)
rs58864725	May 25, 2008 (130)
rs60023375	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66351299, ss76063046, ss84019799, ss112486361, ss168062337, ss172051465, ss208789032, ss283548676, ss292714128, ss484272642, ss1699208483, ss1713724942	NC_000021.7:40434769:G:C	NC_000021.9:40140972:G:C	(self)
79881969, 44212129, 31237178, 5835358, 19694457, 47562979, 17033247, 20729049, 42057486, 11237889, 89582050, 44212129, 9755311, ss228574237, ss237989216, ss244126521, ss479164822, ss532760194, ss566507225, ss662417823, ss779535654, ss780913280, ss835006289, ss995137032, ss1082513810, ss1366359246, ss1429190170, ss1579670419, ss1639600295, ss1682594328, ss1938687127, ss1969229746, ss2030116677, ss2158721535, ss2629557715, ss2633851244, ss2704452643, ss2971995780, ss2985847061, ss3018922014, ss3352727481, ss3628485253, ss3631804686, ss3638369143, ss3642205612, ss3685498930, ss3743748382, ss3759129930, ss3788768410, ss3793641827, ss3798528091, ss3835884178, ss3841569549, ss3890040506, ss3940385585, ss4017869151, ss5231612743, ss5316039675, ss5440003805, ss5664051117, ss5839066350, ss5958948525	NC_000021.8:41512899:G:C	NC_000021.9:40140972:G:C	(self)
104980159, 563699518, 2213266, 39507925, 125985501, 377351858, 1281552160, ss2245921772, ss3028897789, ss3651119757, ss3707768500, ss3822296631, ss3847083103, ss3983129924, ss5102242912, ss5310281784, ss5502323752, ss5617454224, ss5792148397, ss5818460086, ss5853313456, ss5892430187	NC_000021.9:40140972:G:C	NC_000021.9:40140972:G:C	(self)
ss4017794, ss44251608, ss81888205, ss96170542, ss106214462, ss156926138, ss173489776	NT_011512.11:27174770:G:C	NC_000021.9:40140972:G: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 rs2837450

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

rs2837450