Name: rs141808910
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.

rs141808910

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:3485573 (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=0.000336 (89/264690, TOPMED)
A=0.000065 (16/246242, GnomAD_exome)
A=0.000299 (42/140290, GnomAD) (+ 8 more)
A=0.000109 (13/119074, ExAC)
A=0.00051 (40/78466, PAGE_STUDY)
A=0.00024 (10/42488, ALFA)
A=0.00031 (4/13006, GO-ESP)
A=0.0005 (3/6404, 1000G_30x)
A=0.0004 (2/5008, 1000G)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DOK7 : Missense Variant
LOC105374355 : 2KB Upstream 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	58850	G=0.99971	A=0.00029
European	Sub	42904	G=0.99998	A=0.00002
African	Sub	8188	G=0.9983	A=0.0017
African Others	Sub	298	G=1.000	A=0.000
African American	Sub	7890	G=0.9982	A=0.0018
Asian	Sub	146	G=1.000	A=0.000
East Asian	Sub	120	G=1.000	A=0.000
Other Asian	Sub	26	G=1.00	A=0.00
Latin American 1	Sub	500	G=1.000	A=0.000
Latin American 2	Sub	628	G=1.000	A=0.000
South Asian	Sub	104	G=1.000	A=0.000
Other	Sub	6380	G=0.9997	A=0.0003

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=0.999664	A=0.000336
gnomAD - Exomes	Global	Study-wide	246242	G=0.999935	A=0.000065
gnomAD - Exomes	European	Sub	133122	G=1.000000	A=0.000000
gnomAD - Exomes	Asian	Sub	47790	G=1.00000	A=0.00000
gnomAD - Exomes	American	Sub	33590	G=0.99997	A=0.00003
gnomAD - Exomes	African	Sub	15834	G=0.99905	A=0.00095
gnomAD - Exomes	Ashkenazi Jewish	Sub	9950	G=1.0000	A=0.0000
gnomAD - Exomes	Other	Sub	5956	G=1.0000	A=0.0000
gnomAD - Genomes	Global	Study-wide	140290	G=0.999701	A=0.000299
gnomAD - Genomes	European	Sub	75958	G=1.00000	A=0.00000
gnomAD - Genomes	African	Sub	42058	G=0.99900	A=0.00100
gnomAD - Genomes	American	Sub	13668	G=1.00000	A=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2152	G=1.0000	A=0.0000
ExAC	Global	Study-wide	119074	G=0.999891	A=0.000109
ExAC	Europe	Sub	71846	G=1.00000	A=0.00000
ExAC	Asian	Sub	24798	G=1.00000	A=0.00000
ExAC	American	Sub	11448	G=1.00000	A=0.00000
ExAC	African	Sub	10104	G=0.99871	A=0.00129
ExAC	Other	Sub	878	G=1.000	A=0.000
The PAGE Study	Global	Study-wide	78466	G=0.99949	A=0.00051
The PAGE Study	AfricanAmerican	Sub	32348	G=0.99889	A=0.00111
The PAGE Study	Mexican	Sub	10792	G=1.00000	A=0.00000
The PAGE Study	Asian	Sub	8300	G=1.0000	A=0.0000
The PAGE Study	PuertoRican	Sub	7912	G=0.9997	A=0.0003
The PAGE Study	NativeHawaiian	Sub	4522	G=1.0000	A=0.0000
The PAGE Study	Cuban	Sub	4220	G=1.0000	A=0.0000
The PAGE Study	Dominican	Sub	3828	G=0.9997	A=0.0003
The PAGE Study	CentralAmerican	Sub	2448	G=1.0000	A=0.0000
The PAGE Study	SouthAmerican	Sub	1982	G=0.9995	A=0.0005
The PAGE Study	NativeAmerican	Sub	1260	G=1.0000	A=0.0000
The PAGE Study	SouthAsian	Sub	854	G=1.000	A=0.000
Allele Frequency Aggregator	Total	Global	42488	G=0.99976	A=0.00024
Allele Frequency Aggregator	European	Sub	32814	G=0.99997	A=0.00003
Allele Frequency Aggregator	Other	Sub	4946	G=0.9996	A=0.0004
Allele Frequency Aggregator	African	Sub	3350	G=0.9979	A=0.0021
Allele Frequency Aggregator	Latin American 2	Sub	628	G=1.000	A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	500	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	146	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	104	G=1.000	A=0.000
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99969	A=0.00031
GO Exome Sequencing Project	European American	Sub	8600	G=1.0000	A=0.0000
GO Exome Sequencing Project	African American	Sub	4406	G=0.9991	A=0.0009
1000Genomes_30x	Global	Study-wide	6404	G=0.9995	A=0.0005
1000Genomes_30x	African	Sub	1786	G=0.9983	A=0.0017
1000Genomes_30x	Europe	Sub	1266	G=1.0000	A=0.0000
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=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.9996	A=0.0004
1000Genomes	African	Sub	1322	G=0.9985	A=0.0015
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=1.0000	A=0.0000
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=1.000	A=0.000
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 4	NC_000004.12:g.3485573G>A
GRCh37.p13 chr 4	NC_000004.11:g.3487300G>A
DOK7 RefSeqGene (LRG_869)	NG_013072.2:g.27268G>A
LOC126806951 genomic region	NG_083272.1:g.1286G>A

Gene: DOK7, docking protein 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DOK7 transcript variant 3	NM_001256896.2:c.-364=	N/A	5 Prime UTR Variant
DOK7 transcript variant 1	NM_173660.5:c.567G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform 1	NP_775931.3:p.Gly189=	G (Gly) > G (Gly)	Synonymous Variant
DOK7 transcript variant 4	NM_001301071.2:c.567G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform 4	NP_001288000.1:p.Gly189=	G (Gly) > G (Gly)	Synonymous Variant
DOK7 transcript variant 2	NM_001164673.2:c.556G>A	G [GGA] > R [AGA]	Coding Sequence Variant
protein Dok-7 isoform 2	NP_001158145.1:p.Gly186Arg	G (Gly) > R (Arg)	Missense Variant
DOK7 transcript variant 5	NM_001363811.2:c.135G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform 5	NP_001350740.1:p.Gly45=	G (Gly) > G (Gly)	Synonymous Variant
DOK7 transcript variant X4	XM_047450080.1:c.-364=	N/A	5 Prime UTR Variant
DOK7 transcript variant X5	XM_047450081.1:c.-364=	N/A	5 Prime UTR Variant
DOK7 transcript variant X1	XM_011513435.3:c.567G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform X1	XP_011511737.1:p.Gly189=	G (Gly) > G (Gly)	Synonymous Variant
DOK7 transcript variant X2	XM_047450078.1:c.153G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform X2	XP_047306034.1:p.Gly51=	G (Gly) > G (Gly)	Synonymous Variant
DOK7 transcript variant X3	XM_047450079.1:c.321G>A	G [GGG] > G [GGA]	Coding Sequence Variant
protein Dok-7 isoform X3	XP_047306035.1:p.Gly107=	G (Gly) > G (Gly)	Synonymous Variant

Gene: LOC105374355, uncharacterized LOC105374355 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374355 transcript variant X1	XM_047416482.1:c.	N/A	Upstream Transcript Variant
LOC105374355 transcript variant X2	XR_007057994.1:n.	N/A	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.

Allele: A (allele ID: 691550 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000873906.6	Congenital myasthenic syndrome 10,Fetal akinesia deformation sequence 1	Likely-Benign
RCV001593097.3	not provided	Likely-Benign

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 4	NC_000004.12:g.3485573=	NC_000004.12:g.3485573G>A
GRCh37.p13 chr 4	NC_000004.11:g.3487300=	NC_000004.11:g.3487300G>A
DOK7 RefSeqGene (LRG_869)	NG_013072.2:g.27268=	NG_013072.2:g.27268G>A
DOK7 transcript variant 1	NM_173660.5:c.567=	NM_173660.5:c.567G>A
DOK7 transcript variant 1	NM_173660.4:c.567=	NM_173660.4:c.567G>A
DOK7 transcript variant 2	NM_001164673.2:c.556=	NM_001164673.2:c.556G>A
DOK7 transcript variant 2	NM_001164673.1:c.556=	NM_001164673.1:c.556G>A
DOK7 transcript variant 4	NM_001301071.2:c.567=	NM_001301071.2:c.567G>A
DOK7 transcript variant 4	NM_001301071.1:c.567=	NM_001301071.1:c.567G>A
DOK7 transcript variant 3	NM_001256896.2:c.-364=	NM_001256896.2:c.-364G>A
DOK7 transcript variant 3	NM_001256896.1:c.-364=	NM_001256896.1:c.-364G>A
DOK7 transcript variant 5	NM_001363811.2:c.135=	NM_001363811.2:c.135G>A
DOK7 transcript variant 5	NM_001363811.1:c.135=	NM_001363811.1:c.135G>A
LOC126806951 genomic region	NG_083272.1:g.1286=	NG_083272.1:g.1286G>A
DOK7 transcript variant X1	XM_011513435.3:c.567=	XM_011513435.3:c.567G>A
DOK7 transcript variant X1	XM_011513435.2:c.567=	XM_011513435.2:c.567G>A
DOK7 transcript variant X1	XM_011513435.1:c.567=	XM_011513435.1:c.567G>A
DOK7 transcript variant X3	XM_047450079.1:c.321=	XM_047450079.1:c.321G>A
DOK7 transcript variant X5	XM_047450081.1:c.-364=	XM_047450081.1:c.-364G>A
DOK7 transcript variant X4	XM_047450080.1:c.-364=	XM_047450080.1:c.-364G>A
DOK7 transcript variant X2	XM_047450078.1:c.153=	XM_047450078.1:c.153G>A
protein Dok-7 isoform 1	NP_775931.3:p.Gly189=	NP_775931.3:p.Gly189=
protein Dok-7 isoform 2	NP_001158145.1:p.Gly186=	NP_001158145.1:p.Gly186Arg
protein Dok-7 isoform 4	NP_001288000.1:p.Gly189=	NP_001288000.1:p.Gly189=
protein Dok-7 isoform 5	NP_001350740.1:p.Gly45=	NP_001350740.1:p.Gly45=
protein Dok-7 isoform X1	XP_011511737.1:p.Gly189=	XP_011511737.1:p.Gly189=
protein Dok-7 isoform X3	XP_047306035.1:p.Gly107=	XP_047306035.1:p.Gly107=
protein Dok-7 isoform X2	XP_047306034.1:p.Gly51=	XP_047306034.1:p.Gly51=

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#.

26 SubSNP, 10 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	NHLBI-ESP	ss342158520	May 09, 2011 (134)
2	1000GENOMES	ss488781079	May 04, 2012 (137)
3	EXOME_CHIP	ss491352845	May 04, 2012 (137)
4	1000GENOMES	ss1308148446	Aug 21, 2014 (142)
5	EVA_EXAC	ss1687407014	Apr 01, 2015 (144)
6	ILLUMINA	ss1958652280	Feb 12, 2016 (147)
7	HUMAN_LONGEVITY	ss2259953181	Dec 20, 2016 (150)
8	GNOMAD	ss2734373215	Nov 08, 2017 (151)
9	GNOMAD	ss2747195735	Nov 08, 2017 (151)
10	GNOMAD	ss2804861288	Nov 08, 2017 (151)
11	AFFY	ss2985283708	Nov 08, 2017 (151)
12	ILLUMINA	ss3022338719	Nov 08, 2017 (151)
13	ILLUMINA	ss3652821264	Oct 12, 2018 (152)
14	ILLUMINA	ss3654054116	Oct 12, 2018 (152)
15	ILLUMINA	ss3726103365	Jul 13, 2019 (153)
16	EVA	ss3761304106	Jul 13, 2019 (153)
17	PAGE_CC	ss3771100577	Jul 13, 2019 (153)
18	EVA	ss3823997750	Apr 25, 2020 (154)
19	SGDP_PRJ	ss3858055683	Apr 25, 2020 (154)
20	TOPMED	ss4600686471	Apr 26, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5257796734	Oct 13, 2022 (156)
22	EVA	ss5346470510	Oct 13, 2022 (156)
23	HUGCELL_USP	ss5456743096	Oct 13, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5538120250	Oct 13, 2022 (156)
25	EVA	ss5861877654	Oct 13, 2022 (156)
26	EVA	ss5962578155	Oct 13, 2022 (156)
27	1000Genomes	NC_000004.11 - 3487300	Oct 12, 2018 (152)
28	1000Genomes_30x	NC_000004.12 - 3485573	Oct 13, 2022 (156)
29	ExAC	NC_000004.11 - 3487300	Oct 12, 2018 (152)
30	gnomAD - Genomes	NC_000004.12 - 3485573	Apr 26, 2021 (155)
31	gnomAD - Exomes	NC_000004.11 - 3487300	Jul 13, 2019 (153)
32	GO Exome Sequencing Project	NC_000004.11 - 3487300	Oct 12, 2018 (152)
33	The PAGE Study	NC_000004.12 - 3485573	Jul 13, 2019 (153)
34	SGDP_PRJ	NC_000004.11 - 3487300	Apr 25, 2020 (154)
35	TopMed	NC_000004.12 - 3485573	Apr 26, 2021 (155)
36	ALFA	NC_000004.12 - 3485573	Apr 26, 2021 (155)
37	ClinVar	RCV000873906.6	Oct 13, 2022 (156)
38	ClinVar	RCV001593097.3	Oct 13, 2022 (156)

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
19488322, 7364352, 3473818, 455997, 10072663, ss342158520, ss488781079, ss491352845, ss1308148446, ss1687407014, ss1958652280, ss2734373215, ss2747195735, ss2804861288, ss2985283708, ss3022338719, ss3652821264, ss3654054116, ss3761304106, ss3823997750, ss3858055683, ss5346470510, ss5962578155	NC_000004.11:3487299:G:A	NC_000004.12:3485572:G:A	(self)
RCV000873906.6, RCV001593097.3, 25646185, 138354003, 322046, 438064027, 15157808493, ss2259953181, ss3726103365, ss3771100577, ss4600686471, ss5257796734, ss5456743096, ss5538120250, ss5861877654	NC_000004.12:3485572:G:A	NC_000004.12:3485572: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 rs141808910

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

rs141808910