Name: rs184002895
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.

rs184002895

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:38082035 (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=0.001303 (345/264690, TOPMED)
A=0.001347 (256/190118, GnomAD_exome)
A=0.001041 (146/140298, GnomAD) (+ 11 more)
A=0.00138 (68/49126, ALFA)
A=0.00285 (80/28078, ExAC)
A=0.00124 (16/12922, GO-ESP)
A=0.0011 (7/6404, 1000G_30x)
A=0.0010 (5/5008, 1000G)
A=0.0009 (4/4480, Estonian)
A=0.0034 (13/3854, ALSPAC)
A=0.0016 (6/3708, TWINSUK)
A=0.002 (1/600, NorthernSweden)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC16A8 : 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	65076	G=0.99860	A=0.00140
European	Sub	46926	G=0.99844	A=0.00156
African	Sub	8344	G=0.9994	A=0.0006
African Others	Sub	304	G=1.000	A=0.000
African American	Sub	8040	G=0.9994	A=0.0006
Asian	Sub	168	G=1.000	A=0.000
East Asian	Sub	112	G=1.000	A=0.000
Other Asian	Sub	56	G=1.00	A=0.00
Latin American 1	Sub	500	G=1.000	A=0.000
Latin American 2	Sub	628	G=0.997	A=0.003
South Asian	Sub	98	G=1.00	A=0.00
Other	Sub	8412	G=0.9987	A=0.0013

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=0.998697	A=0.001303
gnomAD - Exomes	Global	Study-wide	190118	G=0.998653	A=0.001347
gnomAD - Exomes	European	Sub	97120	G=0.99815	A=0.00185
gnomAD - Exomes	Asian	Sub	39240	G=1.00000	A=0.00000
gnomAD - Exomes	American	Sub	28658	G=0.99766	A=0.00234
gnomAD - Exomes	African	Sub	11326	G=1.00000	A=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	8838	G=0.9998	A=0.0002
gnomAD - Exomes	Other	Sub	4936	G=0.9986	A=0.0014
gnomAD - Genomes	Global	Study-wide	140298	G=0.998959	A=0.001041
gnomAD - Genomes	European	Sub	75956	G=0.99868	A=0.00132
gnomAD - Genomes	African	Sub	42062	G=0.99948	A=0.00052
gnomAD - Genomes	American	Sub	13670	G=0.99868	A=0.00132
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9985	A=0.0015
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2154	G=0.9995	A=0.0005
Allele Frequency Aggregator	Total	Global	49126	G=0.99862	A=0.00138
Allele Frequency Aggregator	European	Sub	37136	G=0.99847	A=0.00153
Allele Frequency Aggregator	Other	Sub	7036	G=0.9990	A=0.0010
Allele Frequency Aggregator	African	Sub	3560	G=0.9994	A=0.0006
Allele Frequency Aggregator	Latin American 2	Sub	628	G=0.997	A=0.003
Allele Frequency Aggregator	Latin American 1	Sub	500	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	168	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00
ExAC	Global	Study-wide	28078	G=0.99715	A=0.00285
ExAC	Europe	Sub	14734	G=0.99511	A=0.00489
ExAC	Asian	Sub	8546	G=1.0000	A=0.0000
ExAC	African	Sub	3184	G=1.0000	A=0.0000
ExAC	American	Sub	1360	G=0.9941	A=0.0059
ExAC	Other	Sub	254	G=1.000	A=0.000
GO Exome Sequencing Project	Global	Study-wide	12922	G=0.99876	A=0.00124
GO Exome Sequencing Project	European American	Sub	8564	G=0.9982	A=0.0018
GO Exome Sequencing Project	African American	Sub	4358	G=0.9998	A=0.0002
1000Genomes_30x	Global	Study-wide	6404	G=0.9989	A=0.0011
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9953	A=0.0047
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.999	A=0.001
1000Genomes	Global	Study-wide	5008	G=0.9990	A=0.0010
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9960	A=0.0040
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=0.999	A=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9991	A=0.0009
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9966	A=0.0034
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9984	A=0.0016
Northern Sweden	ACPOP	Study-wide	600	G=0.998	A=0.002
SGDP_PRJ	Global	Study-wide	2	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 22	NC_000022.11:g.38082035G>A
GRCh37.p13 chr 22	NC_000022.10:g.38478042G>A

Gene: SLC16A8, solute carrier family 16 member 8 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC16A8 transcript variant 2	NM_001394131.1:c.-81+1953… NM_001394131.1:c.-81+1953C>T	N/A	Intron Variant
SLC16A8 transcript variant 1	NM_013356.3:c.215-3C>T	N/A	Intron Variant
SLC16A8 transcript variant X1	XM_017028685.2:c.215-3C>T	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=	A
GRCh38.p14 chr 22	NC_000022.11:g.38082035=	NC_000022.11:g.38082035G>A
GRCh37.p13 chr 22	NC_000022.10:g.38478042=	NC_000022.10:g.38478042G>A
SLC16A8 transcript variant 2	NM_001394131.1:c.-81+1953=	NM_001394131.1:c.-81+1953C>T
SLC16A8 transcript	NM_013356.2:c.215-3=	NM_013356.2:c.215-3C>T
SLC16A8 transcript variant 1	NM_013356.3:c.215-3=	NM_013356.3:c.215-3C>T
SLC16A8 transcript variant X1	XM_017028685.2:c.215-3=	XM_017028685.2:c.215-3C>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#.

28 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss466187635	Sep 17, 2011 (135)
2	NHLBI-ESP	ss713624273	Apr 25, 2013 (138)
3	1000GENOMES	ss1367223696	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1640025434	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1683019467	Apr 01, 2015 (144)
6	EVA_EXAC	ss1694346371	Apr 01, 2015 (144)
7	EVA_DECODE	ss1699437361	Apr 01, 2015 (144)
8	HUMAN_LONGEVITY	ss2247451158	Dec 20, 2016 (150)
9	GNOMAD	ss2745140758	Nov 08, 2017 (151)
10	GNOMAD	ss2750556057	Nov 08, 2017 (151)
11	GNOMAD	ss2974549186	Nov 08, 2017 (151)
12	SWEGEN	ss3019328205	Nov 08, 2017 (151)
13	EGCUT_WGS	ss3685823476	Jul 13, 2019 (153)
14	EVA_DECODE	ss3708230954	Jul 13, 2019 (153)
15	ACPOP	ss3743947013	Jul 13, 2019 (153)
16	EVA	ss3825447691	Apr 27, 2020 (154)
17	EVA	ss3825971230	Apr 27, 2020 (154)
18	SGDP_PRJ	ss3890578124	Apr 27, 2020 (154)
19	EVA	ss3986863703	Apr 27, 2021 (155)
20	TOPMED	ss5109722876	Apr 27, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5311153998	Oct 16, 2022 (156)
22	EVA	ss5441400926	Oct 16, 2022 (156)
23	HUGCELL_USP	ss5502990778	Oct 16, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5618733994	Oct 16, 2022 (156)
25	SANFORD_IMAGENETICS	ss5664522926	Oct 16, 2022 (156)
26	EVA	ss5822093490	Oct 16, 2022 (156)
27	EVA	ss5881882469	Oct 16, 2022 (156)
28	EVA	ss5959380043	Oct 16, 2022 (156)
29	1000Genomes	NC_000022.10 - 38478042	Oct 12, 2018 (152)
30	1000Genomes_30x	NC_000022.11 - 38082035	Oct 16, 2022 (156)
31	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 38478042	Oct 12, 2018 (152)
32	Genetic variation in the Estonian population	NC_000022.10 - 38478042	Oct 12, 2018 (152)
33	ExAC	NC_000022.10 - 38478042	Oct 12, 2018 (152)
34	gnomAD - Genomes	NC_000022.11 - 38082035	Apr 27, 2021 (155)
35	gnomAD - Exomes	NC_000022.10 - 38478042	Jul 13, 2019 (153)
36	GO Exome Sequencing Project	NC_000022.10 - 38478042	Oct 12, 2018 (152)
37	Northern Sweden	NC_000022.10 - 38478042	Jul 13, 2019 (153)
38	SGDP_PRJ	NC_000022.10 - 38478042	Apr 27, 2020 (154)
39	TopMed	NC_000022.11 - 38082035	Apr 27, 2021 (155)
40	UK 10K study - Twins	NC_000022.10 - 38478042	Oct 12, 2018 (152)
41	ALFA	NC_000022.11 - 38082035	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
ss1699437361	NC_000022.9:36807987:G:A	NC_000022.11:38082034:G:A	(self)
80777849, 44682930, 31561724, 5927217, 14472309, 1904520, 17231878, 42595104, 44682930, ss466187635, ss713624273, ss1367223696, ss1640025434, ss1683019467, ss1694346371, ss2745140758, ss2750556057, ss2974549186, ss3019328205, ss3685823476, ss3743947013, ss3825447691, ss3825971230, ss3890578124, ss3986863703, ss5441400926, ss5664522926, ss5822093490, ss5959380043	NC_000022.10:38478041:G:A	NC_000022.11:38082034:G:A	(self)
106259929, 570392293, 384831823, 1132530692, ss2247451158, ss3708230954, ss5109722876, ss5311153998, ss5502990778, ss5618733994, ss5881882469	NC_000022.11:38082034:G:A	NC_000022.11:38082034: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 rs184002895

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

rs184002895