Name: rs7233819
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.

rs7233819

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:69832309 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.039476 (10449/264690, TOPMED)
C=0.048565 (6808/140184, GnomAD)
C=0.06210 (1173/18890, ALFA) (+ 14 more)
C=0.0237 (152/6404, 1000G_30x)
C=0.0248 (124/5008, 1000G)
C=0.1047 (469/4480, Estonian)
C=0.0651 (251/3854, ALSPAC)
C=0.0680 (252/3708, TWINSUK)
C=0.0005 (1/1832, Korea1K)
C=0.075 (75/998, GoNL)
C=0.075 (45/600, NorthernSweden)
C=0.023 (5/216, Qatari)
C=0.05 (2/40, GENOME_DK)
T=0.50 (13/26, SGDP_PRJ)
C=0.50 (13/26, SGDP_PRJ)
T=0.5 (5/10, Siberian)
C=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DOK6 : 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	T=0.93790	C=0.06210
European	Sub	14286	T=0.92314	C=0.07686
African	Sub	2946	T=0.9888	C=0.0112
African Others	Sub	114	T=0.991	C=0.009
African American	Sub	2832	T=0.9887	C=0.0113
Asian	Sub	112	T=1.000	C=0.000
East Asian	Sub	86	T=1.00	C=0.00
Other Asian	Sub	26	T=1.00	C=0.00
Latin American 1	Sub	146	T=0.986	C=0.014
Latin American 2	Sub	610	T=0.977	C=0.023
South Asian	Sub	98	T=0.95	C=0.05
Other	Sub	692	T=0.970	C=0.030

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	T=0.960524	C=0.039476
gnomAD - Genomes	Global	Study-wide	140184	T=0.951435	C=0.048565
gnomAD - Genomes	European	Sub	75874	T=0.92511	C=0.07489
gnomAD - Genomes	African	Sub	42040	T=0.98544	C=0.01456
gnomAD - Genomes	American	Sub	13662	T=0.97709	C=0.02291
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9627	C=0.0373
gnomAD - Genomes	East Asian	Sub	3132	T=0.9997	C=0.0003
gnomAD - Genomes	Other	Sub	2154	T=0.9647	C=0.0353
Allele Frequency Aggregator	Total	Global	18890	T=0.93790	C=0.06210
Allele Frequency Aggregator	European	Sub	14286	T=0.92314	C=0.07686
Allele Frequency Aggregator	African	Sub	2946	T=0.9888	C=0.0112
Allele Frequency Aggregator	Other	Sub	692	T=0.970	C=0.030
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.977	C=0.023
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.986	C=0.014
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.95	C=0.05
1000Genomes_30x	Global	Study-wide	6404	T=0.9763	C=0.0237
1000Genomes_30x	African	Sub	1786	T=0.9944	C=0.0056
1000Genomes_30x	Europe	Sub	1266	T=0.9368	C=0.0632
1000Genomes_30x	South Asian	Sub	1202	T=0.9576	C=0.0424
1000Genomes_30x	East Asian	Sub	1170	T=0.9974	C=0.0026
1000Genomes_30x	American	Sub	980	T=0.992	C=0.008
1000Genomes	Global	Study-wide	5008	T=0.9752	C=0.0248
1000Genomes	African	Sub	1322	T=0.9932	C=0.0068
1000Genomes	East Asian	Sub	1008	T=0.9970	C=0.0030
1000Genomes	Europe	Sub	1006	T=0.9374	C=0.0626
1000Genomes	South Asian	Sub	978	T=0.957	C=0.043
1000Genomes	American	Sub	694	T=0.990	C=0.010
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8953	C=0.1047
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9349	C=0.0651
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9320	C=0.0680
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9995	C=0.0005
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.925	C=0.075
Northern Sweden	ACPOP	Study-wide	600	T=0.925	C=0.075
Qatari	Global	Study-wide	216	T=0.977	C=0.023
The Danish reference pan genome	Danish	Study-wide	40	T=0.95	C=0.05
SGDP_PRJ	Global	Study-wide	26	T=0.50	C=0.50
Siberian	Global	Study-wide	10	T=0.5	C=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 18	NC_000018.10:g.69832309T>C
GRCh37.p13 chr 18	NC_000018.9:g.67499545T>C

Gene: DOK6, docking protein 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DOK6 transcript	NM_152721.6:c.857-8935T>C	N/A	Intron Variant
DOK6 transcript variant X1	XM_017025610.2:c.533-8935… XM_017025610.2:c.533-8935T>C	N/A	Intron Variant
DOK6 transcript variant X2	XM_017025611.2:c.533-8935… XM_017025611.2:c.533-8935T>C	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	T=	C
GRCh38.p14 chr 18	NC_000018.10:g.69832309=	NC_000018.10:g.69832309T>C
GRCh37.p13 chr 18	NC_000018.9:g.67499545=	NC_000018.9:g.67499545T>C
DOK6 transcript	NM_152721.5:c.857-8935=	NM_152721.5:c.857-8935T>C
DOK6 transcript	NM_152721.6:c.857-8935=	NM_152721.6:c.857-8935T>C
DOK6 transcript variant X1	XM_017025610.2:c.533-8935=	XM_017025610.2:c.533-8935T>C
DOK6 transcript variant X2	XM_017025611.2:c.533-8935=	XM_017025611.2:c.533-8935T>C

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#.

35 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10895377	Jul 11, 2003 (116)
2	1000GENOMES	ss237533097	Jul 15, 2010 (132)
3	SSMP	ss661583915	Apr 25, 2013 (138)
4	EVA-GONL	ss993901915	Aug 21, 2014 (142)
5	JMKIDD_LAB	ss1081631367	Aug 21, 2014 (142)
6	1000GENOMES	ss1361667414	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1578476764	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1637224304	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1680218337	Apr 01, 2015 (144)
10	EVA_DECODE	ss1697965341	Apr 01, 2015 (144)
11	WEILL_CORNELL_DGM	ss1937370127	Feb 12, 2016 (147)
12	JJLAB	ss2029459185	Sep 14, 2016 (149)
13	USC_VALOUEV	ss2157966543	Dec 20, 2016 (150)
14	HUMAN_LONGEVITY	ss2222902047	Dec 20, 2016 (150)
15	GNOMAD	ss2958484668	Nov 08, 2017 (151)
16	SWEGEN	ss3016789025	Nov 08, 2017 (151)
17	BIOINF_KMB_FNS_UNIBA	ss3028559954	Nov 08, 2017 (151)
18	CSHL	ss3352102247	Nov 08, 2017 (151)
19	EGCUT_WGS	ss3683641521	Jul 13, 2019 (153)
20	EVA_DECODE	ss3701979852	Jul 13, 2019 (153)
21	ACPOP	ss3742690995	Jul 13, 2019 (153)
22	EVA	ss3755592230	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3820849154	Jul 13, 2019 (153)
24	EVA	ss3835255087	Apr 27, 2020 (154)
25	SGDP_PRJ	ss3887357531	Apr 27, 2020 (154)
26	KOGIC	ss3980453579	Apr 27, 2020 (154)
27	TOPMED	ss5062324440	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5305854874	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5498572375	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5610987737	Oct 16, 2022 (156)
31	SANFORD_IMAGENETICS	ss5661620074	Oct 16, 2022 (156)
32	EVA	ss5827770231	Oct 16, 2022 (156)
33	EVA	ss5852127345	Oct 16, 2022 (156)
34	EVA	ss5874734612	Oct 16, 2022 (156)
35	EVA	ss5953050878	Oct 16, 2022 (156)
36	1000Genomes	NC_000018.9 - 67499545	Oct 12, 2018 (152)
37	1000Genomes_30x	NC_000018.10 - 69832309	Oct 16, 2022 (156)
38	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 67499545	Oct 12, 2018 (152)
39	Genetic variation in the Estonian population	NC_000018.9 - 67499545	Oct 12, 2018 (152)
40	The Danish reference pan genome	NC_000018.9 - 67499545	Apr 27, 2020 (154)
41	gnomAD - Genomes	NC_000018.10 - 69832309	Apr 26, 2021 (155)
42	Genome of the Netherlands Release 5	NC_000018.9 - 67499545	Apr 27, 2020 (154)
43	Korean Genome Project	NC_000018.10 - 69832309	Apr 27, 2020 (154)
44	Northern Sweden	NC_000018.9 - 67499545	Jul 13, 2019 (153)
45	Qatari	NC_000018.9 - 67499545	Apr 27, 2020 (154)
46	SGDP_PRJ	NC_000018.9 - 67499545	Apr 27, 2020 (154)
47	Siberian	NC_000018.9 - 67499545	Apr 27, 2020 (154)
48	TopMed	NC_000018.10 - 69832309	Apr 26, 2021 (155)
49	UK 10K study - Twins	NC_000018.9 - 67499545	Oct 12, 2018 (152)
50	ALFA	NC_000018.10 - 69832309	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
ss1697965341	NC_000018.8:65650524:T:C	NC_000018.10:69832308:T:C	(self)
75020109, 41582750, 29379769, 4665767, 18525635, 15975860, 19412049, 39374511, 10482897, 41582750, ss237533097, ss661583915, ss993901915, ss1081631367, ss1361667414, ss1578476764, ss1637224304, ss1680218337, ss1937370127, ss2029459185, ss2157966543, ss2958484668, ss3016789025, ss3352102247, ss3683641521, ss3742690995, ss3755592230, ss3835255087, ss3887357531, ss5661620074, ss5827770231, ss5953050878	NC_000018.9:67499544:T:C	NC_000018.10:69832308:T:C	(self)
98513672, 529151704, 36831580, 277870103, 4271590575, ss2222902047, ss3028559954, ss3701979852, ss3820849154, ss3980453579, ss5062324440, ss5305854874, ss5498572375, ss5610987737, ss5852127345, ss5874734612	NC_000018.10:69832308:T:C	NC_000018.10:69832308:T:C	(self)
ss10895377	NT_025028.13:15290390:T:C	NC_000018.10:69832308:T: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 rs7233819

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

rs7233819