Name: rs8128624
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.

rs8128624

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:40467492 (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=0.083577 (22122/264690, TOPMED)
A=0.074302 (10411/140118, GnomAD)
A=0.12768 (3608/28258, 14KJPN) (+ 16 more)
A=0.04780 (903/18890, ALFA)
A=0.12864 (2156/16760, 8.3KJPN)
A=0.0988 (633/6404, 1000G_30x)
A=0.0990 (496/5008, 1000G)
A=0.0125 (56/4480, Estonian)
A=0.0171 (66/3854, ALSPAC)
A=0.0165 (61/3708, TWINSUK)
A=0.1485 (435/2930, KOREAN)
A=0.1310 (240/1832, Korea1K)
A=0.010 (10/998, GoNL)
A=0.012 (7/600, NorthernSweden)
A=0.139 (30/216, Qatari)
A=0.153 (33/216, Vietnamese)
G=0.444 (48/108, SGDP_PRJ)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, 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	18890	G=0.95220	A=0.04780
European	Sub	14286	G=0.98152	A=0.01848
African	Sub	2946	G=0.8255	A=0.1745
African Others	Sub	114	G=0.754	A=0.246
African American	Sub	2832	G=0.8284	A=0.1716
Asian	Sub	112	G=0.884	A=0.116
East Asian	Sub	86	G=0.85	A=0.15
Other Asian	Sub	26	G=1.00	A=0.00
Latin American 1	Sub	146	G=0.897	A=0.103
Latin American 2	Sub	610	G=0.928	A=0.072
South Asian	Sub	98	G=0.94	A=0.06
Other	Sub	692	G=0.932	A=0.068

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=0.916423	A=0.083577
gnomAD - Genomes	Global	Study-wide	140118	G=0.925698	A=0.074302
gnomAD - Genomes	European	Sub	75900	G=0.98171	A=0.01829
gnomAD - Genomes	African	Sub	41970	G=0.82518	A=0.17482
gnomAD - Genomes	American	Sub	13652	G=0.92844	A=0.07156
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9594	A=0.0406
gnomAD - Genomes	East Asian	Sub	3130	G=0.8658	A=0.1342
gnomAD - Genomes	Other	Sub	2144	G=0.9282	A=0.0718
14KJPN	JAPANESE	Study-wide	28258	G=0.87232	A=0.12768
Allele Frequency Aggregator	Total	Global	18890	G=0.95220	A=0.04780
Allele Frequency Aggregator	European	Sub	14286	G=0.98152	A=0.01848
Allele Frequency Aggregator	African	Sub	2946	G=0.8255	A=0.1745
Allele Frequency Aggregator	Other	Sub	692	G=0.932	A=0.068
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.928	A=0.072
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.897	A=0.103
Allele Frequency Aggregator	Asian	Sub	112	G=0.884	A=0.116
Allele Frequency Aggregator	South Asian	Sub	98	G=0.94	A=0.06
8.3KJPN	JAPANESE	Study-wide	16760	G=0.87136	A=0.12864
1000Genomes_30x	Global	Study-wide	6404	G=0.9012	A=0.0988
1000Genomes_30x	African	Sub	1786	G=0.8225	A=0.1775
1000Genomes_30x	Europe	Sub	1266	G=0.9826	A=0.0174
1000Genomes_30x	South Asian	Sub	1202	G=0.9493	A=0.0507
1000Genomes_30x	East Asian	Sub	1170	G=0.8598	A=0.1402
1000Genomes_30x	American	Sub	980	G=0.930	A=0.070
1000Genomes	Global	Study-wide	5008	G=0.9010	A=0.0990
1000Genomes	African	Sub	1322	G=0.8177	A=0.1823
1000Genomes	East Asian	Sub	1008	G=0.8621	A=0.1379
1000Genomes	Europe	Sub	1006	G=0.9801	A=0.0199
1000Genomes	South Asian	Sub	978	G=0.952	A=0.048
1000Genomes	American	Sub	694	G=0.929	A=0.071
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9875	A=0.0125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9829	A=0.0171
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9835	A=0.0165
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8515	A=0.1485
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8690	A=0.1310
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.990	A=0.010
Northern Sweden	ACPOP	Study-wide	600	G=0.988	A=0.012
Qatari	Global	Study-wide	216	G=0.861	A=0.139
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.847	A=0.153
SGDP_PRJ	Global	Study-wide	108	G=0.444	A=0.556
Siberian	Global	Study-wide	8	G=0.5	A=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 21	NC_000021.9:g.40467492G>A
GRCh37.p13 chr 21	NC_000021.8:g.41839419G>A
GRCh38.p14 chr 21 fix patch HG2265_PATCH	NW_025791814.1:g.607146G>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
DSCAM transcript variant 2	NM_001271534.3:c.509-9824… NM_001271534.3:c.509-98247C>T	N/A	Intron Variant
DSCAM transcript variant 1	NM_001389.5:c.509-98247C>T	N/A	Intron Variant
DSCAM transcript variant 3	NR_073202.3:n.	N/A	Intron Variant
DSCAM transcript variant X1	XM_017028281.2:c.	N/A	Genic Upstream Transcript 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=	A
GRCh38.p14 chr 21	NC_000021.9:g.40467492=	NC_000021.9:g.40467492G>A
GRCh37.p13 chr 21	NC_000021.8:g.41839419=	NC_000021.8:g.41839419G>A
GRCh38.p14 chr 21 fix patch HG2265_PATCH	NW_025791814.1:g.607146=	NW_025791814.1:g.607146G>A
DSCAM transcript variant 2	NM_001271534.1:c.509-98247=	NM_001271534.1:c.509-98247C>T
DSCAM transcript variant 2	NM_001271534.3:c.509-98247=	NM_001271534.3:c.509-98247C>T
DSCAM transcript variant 1	NM_001389.3:c.509-98247=	NM_001389.3:c.509-98247C>T
DSCAM transcript variant 1	NM_001389.5:c.509-98247=	NM_001389.5:c.509-98247C>T

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#.

44 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12504443	Jul 11, 2003 (116)
2	GMI	ss156928610	Dec 01, 2009 (131)
3	1000GENOMES	ss228575945	Jul 14, 2010 (132)
4	1000GENOMES	ss244127458	Jul 15, 2010 (132)
5	GMI	ss283549742	May 04, 2012 (137)
6	SSMP	ss662419913	Apr 25, 2013 (138)
7	EVA-GONL	ss995139966	Aug 21, 2014 (142)
8	JMKIDD_LAB	ss1082516106	Aug 21, 2014 (142)
9	1000GENOMES	ss1366370020	Aug 21, 2014 (142)
10	EVA_UK10K_ALSPAC	ss1639606204	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1682600237	Apr 01, 2015 (144)
12	EVA_DECODE	ss1699211433	Apr 01, 2015 (144)
13	HAMMER_LAB	ss1809697174	Sep 08, 2015 (146)
14	WEILL_CORNELL_DGM	ss1938689990	Feb 12, 2016 (147)
15	JJLAB	ss2030118122	Sep 14, 2016 (149)
16	USC_VALOUEV	ss2158723164	Dec 20, 2016 (150)
17	HUMAN_LONGEVITY	ss2245943385	Dec 20, 2016 (150)
18	SYSTEMSBIOZJU	ss2629558519	Nov 08, 2017 (151)
19	GRF	ss2704454335	Nov 08, 2017 (151)
20	GNOMAD	ss2972024145	Nov 08, 2017 (151)
21	SWEGEN	ss3018926187	Nov 08, 2017 (151)
22	EGCUT_WGS	ss3685503433	Jul 13, 2019 (153)
23	EVA_DECODE	ss3707773553	Jul 13, 2019 (153)
24	ACPOP	ss3743750751	Jul 13, 2019 (153)
25	EVA	ss3759133224	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3822300068	Jul 13, 2019 (153)
27	EVA	ss3835885529	Apr 27, 2020 (154)
28	SGDP_PRJ	ss3890046271	Apr 27, 2020 (154)
29	KRGDB	ss3940391489	Apr 27, 2020 (154)
30	KOGIC	ss3983134790	Apr 27, 2020 (154)
31	TOPMED	ss5102330160	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5231624201	Apr 27, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5310291250	Oct 16, 2022 (156)
34	EVA	ss5440021208	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5502332157	Oct 16, 2022 (156)
36	EVA	ss5512330036	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5617467977	Oct 16, 2022 (156)
38	SANFORD_IMAGENETICS	ss5664056508	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5792163024	Oct 16, 2022 (156)
40	YY_MCH	ss5818462364	Oct 16, 2022 (156)
41	EVA	ss5839070008	Oct 16, 2022 (156)
42	EVA	ss5853314825	Oct 16, 2022 (156)
43	EVA	ss5892441112	Oct 16, 2022 (156)
44	EVA	ss5958954054	Oct 16, 2022 (156)
45	1000Genomes	NC_000021.8 - 41839419	Oct 12, 2018 (152)
46	1000Genomes_30x	NC_000021.9 - 40467492	Oct 16, 2022 (156)
47	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 41839419	Oct 12, 2018 (152)
48	Genetic variation in the Estonian population	NC_000021.8 - 41839419	Oct 12, 2018 (152)
49	gnomAD - Genomes	NC_000021.9 - 40467492	Apr 27, 2021 (155)
50	Genome of the Netherlands Release 5	NC_000021.8 - 41839419	Apr 27, 2020 (154)
51	KOREAN population from KRGDB	NC_000021.8 - 41839419	Apr 27, 2020 (154)
52	Korean Genome Project	NC_000021.9 - 40467492	Apr 27, 2020 (154)
53	Northern Sweden	NC_000021.8 - 41839419	Jul 13, 2019 (153)
54	Qatari	NC_000021.8 - 41839419	Apr 27, 2020 (154)
55	SGDP_PRJ	NC_000021.8 - 41839419	Apr 27, 2020 (154)
56	Siberian	NC_000021.8 - 41839419	Apr 27, 2020 (154)
57	8.3KJPN	NC_000021.8 - 41839419	Apr 27, 2021 (155)
58	14KJPN	NC_000021.9 - 40467492	Oct 16, 2022 (156)
59	TopMed	NC_000021.9 - 40467492	Apr 27, 2021 (155)
60	UK 10K study - Twins	NC_000021.8 - 41839419	Oct 12, 2018 (152)
61	A Vietnamese Genetic Variation Database	NC_000021.8 - 41839419	Jul 13, 2019 (153)
62	ALFA	NC_000021.9 - 40467492	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss283549742, ss1699211433	NC_000021.7:40761288:G:A	NC_000021.9:40467491:G:A	(self)
79893121, 44218495, 31241681, 19697304, 47568883, 17035616, 20731912, 42063251, 11239518, 89593508, 44218495, 9756780, ss228575945, ss244127458, ss662419913, ss995139966, ss1082516106, ss1366370020, ss1639606204, ss1682600237, ss1809697174, ss1938689990, ss2030118122, ss2158723164, ss2629558519, ss2704454335, ss2972024145, ss3018926187, ss3685503433, ss3743750751, ss3759133224, ss3835885529, ss3890046271, ss3940391489, ss5231624201, ss5440021208, ss5512330036, ss5664056508, ss5839070008, ss5958954054	NC_000021.8:41839418:G:A	NC_000021.9:40467491:G:A	(self)
104993912, 563771081, 39512791, 126000128, 377439106, 3041008714, ss2245943385, ss3707773553, ss3822300068, ss3983134790, ss5102330160, ss5310291250, ss5502332157, ss5617467977, ss5792163024, ss5818462364, ss5853314825, ss5892441112	NC_000021.9:40467491:G:A	NC_000021.9:40467491:G:A	(self)
ss12504443	NT_011512.8:27500254:G:A	NC_000021.9:40467491:G:A	(self)
ss156928610	NT_011512.11:27501289:G:A	NC_000021.9:40467491: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 rs8128624

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
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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

rs8128624