Name: rs7220384
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.

rs7220384

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:164509 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.192142 (50858/264690, TOPMED)
T=0.04823 (1363/28258, 14KJPN)
T=0.04916 (824/16760, 8.3KJPN) (+ 15 more)
T=0.1947 (1247/6404, 1000G_30x)
T=0.1971 (1050/5326, ALFA)
T=0.1909 (956/5008, 1000G)
T=0.1112 (498/4480, Estonian)
T=0.1388 (535/3854, ALSPAC)
T=0.1319 (489/3708, TWINSUK)
T=0.0891 (261/2930, KOREAN)
T=0.125 (125/998, GoNL)
T=0.127 (76/600, NorthernSweden)
T=0.152 (80/526, SGDP_PRJ)
C=0.014 (4/284, Korea1K)
T=0.384 (83/216, Qatari)
T=0.203 (43/212, Vietnamese)
T=0.09 (5/56, Siberian)
T=0.05 (2/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DOC2B : 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	5326	T=0.1971	C=0.8029, G=0.0000
European	Sub	4832	T=0.1556	C=0.8444, G=0.0000
African	Sub	262	T=0.863	C=0.137, G=0.000
African Others	Sub	6	T=1.0	C=0.0, G=0.0
African American	Sub	256	T=0.859	C=0.141, G=0.000
Asian	Sub	2	T=1.0	C=0.0, G=0.0
East Asian	Sub	0	T=0	C=0, G=0
Other Asian	Sub	2	T=1.0	C=0.0, G=0.0
Latin American 1	Sub	4	T=1.0	C=0.0, G=0.0
Latin American 2	Sub	12	T=1.00	C=0.00, G=0.00
South Asian	Sub	6	T=1.0	C=0.0, G=0.0
Other	Sub	208	T=0.231	C=0.769, G=0.000

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=0.192142	C=0.807858
14KJPN	JAPANESE	Study-wide	28258	T=0.04823	C=0.95177
8.3KJPN	JAPANESE	Study-wide	16760	T=0.04916	C=0.95084
1000Genomes_30x	Global	Study-wide	6404	T=0.1947	C=0.8053
1000Genomes_30x	African	Sub	1786	T=0.3119	C=0.6881
1000Genomes_30x	Europe	Sub	1266	T=0.1532	C=0.8468
1000Genomes_30x	South Asian	Sub	1202	T=0.1747	C=0.8253
1000Genomes_30x	East Asian	Sub	1170	T=0.1444	C=0.8556
1000Genomes_30x	American	Sub	980	T=0.119	C=0.881
Allele Frequency Aggregator	Total	Global	5326	T=0.1971	C=0.8029, G=0.0000
Allele Frequency Aggregator	European	Sub	4832	T=0.1556	C=0.8444, G=0.0000
Allele Frequency Aggregator	African	Sub	262	T=0.863	C=0.137, G=0.000
Allele Frequency Aggregator	Other	Sub	208	T=0.231	C=0.769, G=0.000
Allele Frequency Aggregator	Latin American 2	Sub	12	T=1.00	C=0.00, G=0.00
Allele Frequency Aggregator	South Asian	Sub	6	T=1.0	C=0.0, G=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	T=1.0	C=0.0, G=0.0
Allele Frequency Aggregator	Asian	Sub	2	T=1.0	C=0.0, G=0.0
1000Genomes	Global	Study-wide	5008	T=0.1909	C=0.8091
1000Genomes	African	Sub	1322	T=0.3101	C=0.6899
1000Genomes	East Asian	Sub	1008	T=0.1419	C=0.8581
1000Genomes	Europe	Sub	1006	T=0.1600	C=0.8400
1000Genomes	South Asian	Sub	978	T=0.164	C=0.836
1000Genomes	American	Sub	694	T=0.118	C=0.882
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1112	C=0.8888
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1388	C=0.8612
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.1319	C=0.8681
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0891	A=0.0000, C=0.9109, G=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.125	C=0.875
Northern Sweden	ACPOP	Study-wide	600	T=0.127	C=0.873
SGDP_PRJ	Global	Study-wide	526	T=0.152	C=0.848
Korean Genome Project	KOREAN	Study-wide	284	T=0.986	C=0.014
Qatari	Global	Study-wide	216	T=0.384	C=0.616
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.203	C=0.797
Siberian	Global	Study-wide	56	T=0.09	C=0.91
The Danish reference pan genome	Danish	Study-wide	40	T=0.05	C=0.95

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 17	NC_000017.11:g.164509T>A
GRCh38.p14 chr 17	NC_000017.11:g.164509T>C
GRCh38.p14 chr 17	NC_000017.11:g.164509T>G
GRCh37.p13 chr 17 fix patch HG417_PATCH	NW_004070872.2:g.104507T>A
GRCh37.p13 chr 17 fix patch HG417_PATCH	NW_004070872.2:g.104507T>C
GRCh37.p13 chr 17 fix patch HG417_PATCH	NW_004070872.2:g.104507T>G
DOC2B RefSeqGene	NG_021143.2:g.22122A>T
DOC2B RefSeqGene	NG_021143.2:g.22122A>G
DOC2B RefSeqGene	NG_021143.2:g.22122A>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1	NW_003315952.3:g.104511T>A
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1	NW_003315952.3:g.104511T>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1	NW_003315952.3:g.104511T>G
GRCh37.p13 chr 17	NC_000017.10:g.14300T>A
GRCh37.p13 chr 17	NC_000017.10:g.14300T>C
GRCh37.p13 chr 17	NC_000017.10:g.14300T>G

Gene: DOC2B, double C2 domain beta (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DOC2B transcript	NM_003585.5:c.454-305A>T	N/A	Intron Variant
DOC2B transcript variant X2	XM_011535363.4:c.454-2319… XM_011535363.4:c.454-2319A>T	N/A	Intron Variant
DOC2B transcript variant X3	XM_017025227.2:c.454-305A… XM_017025227.2:c.454-305A>T	N/A	Intron Variant
DOC2B transcript variant X4	XM_047436938.1:c.454-305A… XM_047436938.1:c.454-305A>T	N/A	Intron Variant
DOC2B transcript variant X1	XR_007065502.1:n.	N/A	Intron Variant
DOC2B transcript variant X5	XR_942190.3:n.	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=	A	C	G
GRCh38.p14 chr 17	NC_000017.11:g.164509=	NC_000017.11:g.164509T>A	NC_000017.11:g.164509T>C	NC_000017.11:g.164509T>G
GRCh37.p13 chr 17 fix patch HG417_PATCH	NW_004070872.2:g.104507=	NW_004070872.2:g.104507T>A	NW_004070872.2:g.104507T>C	NW_004070872.2:g.104507T>G
DOC2B RefSeqGene	NG_021143.2:g.22122=	NG_021143.2:g.22122A>T	NG_021143.2:g.22122A>G	NG_021143.2:g.22122A>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1	NW_003315952.3:g.104511=	NW_003315952.3:g.104511T>A	NW_003315952.3:g.104511T>C	NW_003315952.3:g.104511T>G
GRCh37.p13 chr 17	NC_000017.10:g.14300=	NC_000017.10:g.14300T>A	NC_000017.10:g.14300T>C	NC_000017.10:g.14300T>G
DOC2B transcript	NM_003585.4:c.454-305=	NM_003585.4:c.454-305A>T	NM_003585.4:c.454-305A>G	NM_003585.4:c.454-305A>C
DOC2B transcript	NM_003585.5:c.454-305=	NM_003585.5:c.454-305A>T	NM_003585.5:c.454-305A>G	NM_003585.5:c.454-305A>C
DOC2B transcript variant X2	XM_011535363.4:c.454-2319=	XM_011535363.4:c.454-2319A>T	XM_011535363.4:c.454-2319A>G	XM_011535363.4:c.454-2319A>C
DOC2B transcript variant X3	XM_017025227.2:c.454-305=	XM_017025227.2:c.454-305A>T	XM_017025227.2:c.454-305A>G	XM_017025227.2:c.454-305A>C
DOC2B transcript variant X4	XM_047436938.1:c.454-305=	XM_047436938.1:c.454-305A>T	XM_047436938.1:c.454-305A>G	XM_047436938.1:c.454-305A>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#.

75 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10870336	Jul 11, 2003 (116)
2	ABI	ss40829732	Mar 13, 2006 (126)
3	BCMHGSC_JDW	ss90501866	Mar 24, 2008 (131)
4	HUMANGENOME_JCVI	ss96572729	Feb 06, 2009 (131)
5	BGI	ss103324076	Dec 01, 2009 (131)
6	ILLUMINA-UK	ss117967037	Feb 14, 2009 (131)
7	ENSEMBL	ss132566453	Dec 01, 2009 (131)
8	GMI	ss157740017	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss167618006	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss168826691	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss171035150	Jul 04, 2010 (132)
12	BUSHMAN	ss202104692	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss207913471	Jul 04, 2010 (132)
14	BL	ss255419394	May 09, 2011 (134)
15	GMI	ss282657741	May 04, 2012 (137)
16	GMI	ss287131389	Apr 25, 2013 (138)
17	PJP	ss291955555	May 09, 2011 (134)
18	1000GENOMES	ss339497203	May 09, 2011 (134)
19	TISHKOFF	ss565113634	Apr 25, 2013 (138)
20	SSMP	ss660893937	Apr 25, 2013 (138)
21	EVA-GONL	ss992832810	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1080871035	Aug 21, 2014 (142)
23	1000GENOMES	ss1357569823	Aug 21, 2014 (142)
24	DDI	ss1427949324	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1578052345	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1635120528	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1678114561	Apr 01, 2015 (144)
28	EVA_DECODE	ss1696874156	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1808663602	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1936275831	Feb 12, 2016 (147)
31	ILLUMINA	ss1959711936	Feb 12, 2016 (147)
32	GENOMED	ss1968333972	Jul 19, 2016 (147)
33	JJLAB	ss2028927517	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2157369065	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2214836785	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2628953960	Oct 12, 2018 (152)
37	GRF	ss2701906299	Oct 12, 2018 (152)
38	GNOMAD	ss2946733211	Oct 12, 2018 (152)
39	SWEGEN	ss3015046711	Oct 12, 2018 (152)
40	ILLUMINA	ss3021742413	Oct 12, 2018 (152)
41	BIOINF_KMB_FNS_UNIBA	ss3028281320	Nov 08, 2017 (151)
42	CSHL	ss3351607826	Oct 12, 2018 (152)
43	URBANLAB	ss3650582698	Oct 12, 2018 (152)
44	ILLUMINA	ss3652154824	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3682021724	Jul 13, 2019 (153)
46	EVA_DECODE	ss3699910471	Jul 13, 2019 (153)
47	ACPOP	ss3741793934	Jul 13, 2019 (153)
48	EVA	ss3754345501	Jul 13, 2019 (153)
49	PACBIO	ss3788124758	Jul 13, 2019 (153)
50	PACBIO	ss3793095630	Jul 13, 2019 (153)
51	PACBIO	ss3797981071	Jul 13, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3819615774	Jul 13, 2019 (153)
53	EVA	ss3834733217	Apr 27, 2020 (154)
54	EVA	ss3840973911	Apr 27, 2020 (154)
55	EVA	ss3846467710	Apr 27, 2020 (154)
56	SGDP_PRJ	ss3885144510	Apr 27, 2020 (154)
57	KRGDB	ss3934711325	Apr 27, 2020 (154)
58	KOGIC	ss3978228040	Apr 27, 2020 (154)
59	VINODS	ss4032977118	Apr 26, 2021 (155)
60	GNOMAD	ss4306537879	Apr 26, 2021 (155)
61	GNOMAD	ss4306537880	Apr 26, 2021 (155)
62	TOPMED	ss5026694641	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5221081330	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5302116295	Oct 17, 2022 (156)
65	EVA	ss5425839994	Oct 17, 2022 (156)
66	HUGCELL_USP	ss5495334199	Oct 17, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5605343252	Oct 17, 2022 (156)
68	SANFORD_IMAGENETICS	ss5659550973	Oct 17, 2022 (156)
69	TOMMO_GENOMICS	ss5776542348	Oct 17, 2022 (156)
70	YY_MCH	ss5816255879	Oct 17, 2022 (156)
71	EVA	ss5833597902	Oct 17, 2022 (156)
72	EVA	ss5851703101	Oct 17, 2022 (156)
73	EVA	ss5912896436	Oct 17, 2022 (156)
74	EVA	ss5950963829	Oct 17, 2022 (156)
75	EVA	ss5980943257	Oct 17, 2022 (156)
76	1000Genomes	NC_000017.10 - 14300	Oct 12, 2018 (152)
77	1000Genomes_30x	NC_000017.11 - 164509	Oct 17, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 14300	Oct 12, 2018 (152)
79	Genetic variation in the Estonian population	NC_000017.10 - 14300	Oct 12, 2018 (152)
80	The Danish reference pan genome	NC_000017.10 - 14300	Apr 27, 2020 (154)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499069915 (NC_000017.11:164508:T:C 113862/140068) Row 499069916 (NC_000017.11:164508:T:G 1/140108)	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499069915 (NC_000017.11:164508:T:C 113862/140068) Row 499069916 (NC_000017.11:164508:T:G 1/140108)	-	Apr 26, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000017.10 - 14300	Apr 27, 2020 (154)
84	KOREAN population from KRGDB	NC_000017.10 - 14300	Apr 27, 2020 (154)
85	Korean Genome Project	NC_000017.11 - 164509	Apr 27, 2020 (154)
86	Northern Sweden	NC_000017.10 - 14300	Jul 13, 2019 (153)
87	Qatari	NC_000017.10 - 14300	Apr 27, 2020 (154)
88	SGDP_PRJ	NC_000017.10 - 14300	Apr 27, 2020 (154)
89	Siberian	NC_000017.10 - 14300	Apr 27, 2020 (154)
90	8.3KJPN	NC_000017.10 - 14300	Apr 26, 2021 (155)
91	14KJPN	NC_000017.11 - 164509	Oct 17, 2022 (156)
92	TopMed	NC_000017.11 - 164509	Apr 26, 2021 (155)
93	UK 10K study - Twins	NC_000017.10 - 14300	Oct 12, 2018 (152)
94	A Vietnamese Genetic Variation Database	NC_000017.10 - 14300	Jul 13, 2019 (153)
95	ALFA	NC_000017.11 - 164509	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).

Associated ID	History Updated (Build)
rs62055001	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
41888719, ss3934711325	NC_000017.10:14299:T:A	NC_000017.11:164508:T:A	(self)
ss90501866, ss117967037, ss167618006, ss168826691, ss171035150, ss202104692, ss207913471, ss255419394, ss282657741, ss287131389, ss291955555, ss1696874156	NC_000017.9:14299:T:C	NC_000017.11:164508:T:C	(self)
70771383, 39257053, 27759972, 4259001, 17499833, 41888719, 15078799, 18317753, 37161490, 9885419, 79050637, 39257053, 8697908, ss339497203, ss565113634, ss660893937, ss992832810, ss1080871035, ss1357569823, ss1427949324, ss1578052345, ss1635120528, ss1678114561, ss1808663602, ss1936275831, ss1959711936, ss1968333972, ss2028927517, ss2157369065, ss2628953960, ss2701906299, ss2946733211, ss3015046711, ss3021742413, ss3351607826, ss3652154824, ss3682021724, ss3741793934, ss3754345501, ss3788124758, ss3793095630, ss3797981071, ss3834733217, ss3840973911, ss3885144510, ss3934711325, ss5221081330, ss5425839994, ss5659550973, ss5833597902, ss5950963829, ss5980943257	NC_000017.10:14299:T:C	NC_000017.11:164508:T:C	(self)
92869187, 34606041, 110379452, 242240303, 2359551309, ss2214836785, ss3028281320, ss3650582698, ss3699910471, ss3819615774, ss3846467710, ss3978228040, ss4306537879, ss5026694641, ss5302116295, ss5495334199, ss5605343252, ss5776542348, ss5816255879, ss5851703101, ss5912896436	NC_000017.11:164508:T:C	NC_000017.11:164508:T:C	(self)
ss10870336	NT_024972.6:14299:T:C	NC_000017.11:164508:T:C	(self)
ss40829732, ss96572729, ss103324076, ss132566453, ss157740017	NT_024972.8:14299:T:C	NC_000017.11:164508:T:C	(self)
ss4032977118	NW_003315952.3:104510:T:C	NC_000017.11:164508:T:C	(self)
41888719, ss2946733211, ss3934711325	NC_000017.10:14299:T:G	NC_000017.11:164508:T:G	(self)
2359551309, ss4306537880	NC_000017.11:164508:T:G	NC_000017.11:164508:T:G	(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 rs7220384

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

rs7220384