Name: rs175182
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.

rs175182

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:20151776 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.388757 (102900/264690, TOPMED)
C=0.381066 (51373/134814, GnomAD)
T=0.48435 (13682/28248, 14KJPN) (+ 15 more)
C=0.37608 (8179/21748, ALFA)
T=0.48890 (8192/16756, 8.3KJPN)
C=0.4488 (2874/6404, 1000G_30x)
C=0.4537 (2272/5008, 1000G)
C=0.3799 (1464/3854, ALSPAC)
C=0.3792 (1406/3708, TWINSUK)
T=0.4457 (1306/2930, KOREAN)
T=0.3947 (723/1832, Korea1K)
C=0.381 (380/998, GoNL)
C=0.383 (230/600, NorthernSweden)
C=0.302 (130/430, SGDP_PRJ)
C=0.363 (119/328, HapMap)
C=0.306 (66/216, Qatari)
C=0.31 (16/52, Siberian)
C=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CCDC188 : 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	21748	C=0.37608	T=0.62392
European	Sub	14360	C=0.38294	T=0.61706
African	Sub	5582	C=0.3321	T=0.6679
African Others	Sub	198	C=0.288	T=0.712
African American	Sub	5384	C=0.3338	T=0.6662
Asian	Sub	146	C=0.596	T=0.404
East Asian	Sub	120	C=0.600	T=0.400
Other Asian	Sub	26	C=0.58	T=0.42
Latin American 1	Sub	146	C=0.342	T=0.658
Latin American 2	Sub	610	C=0.513	T=0.487
South Asian	Sub	104	C=0.673	T=0.327
Other	Sub	800	C=0.383	T=0.618

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	C=0.388757	T=0.611243
gnomAD - Genomes	Global	Study-wide	134814	C=0.381066	T=0.618934
gnomAD - Genomes	European	Sub	73742	C=0.37871	T=0.62129
gnomAD - Genomes	African	Sub	39754	C=0.33768	T=0.66232
gnomAD - Genomes	American	Sub	12800	C=0.46539	T=0.53461
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	C=0.4014	T=0.5986
gnomAD - Genomes	East Asian	Sub	3106	C=0.6146	T=0.3854
gnomAD - Genomes	Other	Sub	2096	C=0.3936	T=0.6064
14KJPN	JAPANESE	Study-wide	28248	C=0.51565	T=0.48435
Allele Frequency Aggregator	Total	Global	21748	C=0.37608	T=0.62392
Allele Frequency Aggregator	European	Sub	14360	C=0.38294	T=0.61706
Allele Frequency Aggregator	African	Sub	5582	C=0.3321	T=0.6679
Allele Frequency Aggregator	Other	Sub	800	C=0.383	T=0.618
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.513	T=0.487
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.342	T=0.658
Allele Frequency Aggregator	Asian	Sub	146	C=0.596	T=0.404
Allele Frequency Aggregator	South Asian	Sub	104	C=0.673	T=0.327
8.3KJPN	JAPANESE	Study-wide	16756	C=0.51110	T=0.48890
1000Genomes_30x	Global	Study-wide	6404	C=0.4488	T=0.5512
1000Genomes_30x	African	Sub	1786	C=0.3259	T=0.6741
1000Genomes_30x	Europe	Sub	1266	C=0.3736	T=0.6264
1000Genomes_30x	South Asian	Sub	1202	C=0.5391	T=0.4609
1000Genomes_30x	East Asian	Sub	1170	C=0.5966	T=0.4034
1000Genomes_30x	American	Sub	980	C=0.483	T=0.517
1000Genomes	Global	Study-wide	5008	C=0.4537	T=0.5463
1000Genomes	African	Sub	1322	C=0.3290	T=0.6710
1000Genomes	East Asian	Sub	1008	C=0.5982	T=0.4018
1000Genomes	Europe	Sub	1006	C=0.3718	T=0.6282
1000Genomes	South Asian	Sub	978	C=0.532	T=0.468
1000Genomes	American	Sub	694	C=0.490	T=0.510
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3799	T=0.6201
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3792	T=0.6208
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5543	T=0.4457
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6053	T=0.3947
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.381	T=0.619
Northern Sweden	ACPOP	Study-wide	600	C=0.383	T=0.617
SGDP_PRJ	Global	Study-wide	430	C=0.302	T=0.698
HapMap	Global	Study-wide	328	C=0.363	T=0.637
HapMap	African	Sub	120	C=0.292	T=0.708
HapMap	American	Sub	120	C=0.325	T=0.675
HapMap	Asian	Sub	88	C=0.51	T=0.49
Qatari	Global	Study-wide	216	C=0.306	T=0.694
Siberian	Global	Study-wide	52	C=0.31	T=0.69
The Danish reference pan genome	Danish	Study-wide	40	C=0.25	T=0.75

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.20151776C>T
GRCh37.p13 chr 22	NC_000022.10:g.20139299C>T

Gene: CCDC188, coiled-coil domain containing 188 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
CCDC188 transcript	NM_001365892.2:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X4	XM_005261238.4:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X5	XM_005261239.4:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X7	XM_005261241.4:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X6	XM_011530171.3:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X1	XM_047441357.1:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X2	XM_047441358.1:c.	N/A	Upstream Transcript Variant
CCDC188 transcript variant X3	XM_047441359.1:c.	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.

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	C=	T
GRCh38.p14 chr 22	NC_000022.11:g.20151776=	NC_000022.11:g.20151776C>T
GRCh37.p13 chr 22	NC_000022.10:g.20139299=	NC_000022.10:g.20139299C>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#.

83 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss233200	Jul 12, 2000 (79)
2	SC_JCM	ss554607	Jul 16, 2000 (92)
3	KWOK	ss1264637	Oct 04, 2000 (92)
4	KWOK	ss1750503	Oct 18, 2000 (87)
5	KWOK	ss1750551	Oct 18, 2000 (87)
6	SC_SNP	ss7994600	Apr 21, 2003 (114)
7	SC_SNP	ss13378904	Dec 05, 2003 (119)
8	CSHL-HAPMAP	ss19502107	Feb 27, 2004 (120)
9	SSAHASNP	ss21840127	Apr 05, 2004 (121)
10	ABI	ss41502373	Mar 16, 2006 (126)
11	HGSV	ss79747336	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss80750563	Dec 15, 2007 (130)
13	HGSV	ss82718089	Dec 15, 2007 (130)
14	HUMANGENOME_JCVI	ss96092738	Feb 06, 2009 (130)
15	1000GENOMES	ss112552396	Jan 25, 2009 (130)
16	1000GENOMES	ss114037667	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss117362576	Dec 01, 2009 (131)
18	ENSEMBL	ss143090072	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss167687002	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss168894779	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss171833813	Jul 04, 2010 (132)
22	BUSHMAN	ss204050903	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss208816899	Jul 04, 2010 (132)
24	1000GENOMES	ss228618794	Jul 14, 2010 (132)
25	1000GENOMES	ss238022933	Jul 15, 2010 (132)
26	1000GENOMES	ss244152137	Jul 15, 2010 (132)
27	GMI	ss283587652	May 04, 2012 (137)
28	GMI	ss287550349	Apr 25, 2013 (138)
29	PJP	ss292736554	May 09, 2011 (134)
30	ILLUMINA	ss479413271	May 04, 2012 (137)
31	ILLUMINA	ss484289547	May 04, 2012 (137)
32	TISHKOFF	ss566561648	Apr 25, 2013 (138)
33	SSMP	ss662484789	Apr 25, 2013 (138)
34	ILLUMINA	ss780975233	Sep 08, 2015 (146)
35	EVA-GONL	ss995224381	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1082571401	Aug 21, 2014 (142)
37	1000GENOMES	ss1366689135	Aug 21, 2014 (142)
38	DDI	ss1429220237	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1579704777	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1639756941	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1682750974	Apr 01, 2015 (144)
42	HAMMER_LAB	ss1809734529	Sep 08, 2015 (146)
43	WEILL_CORNELL_DGM	ss1938785809	Feb 12, 2016 (147)
44	ILLUMINA	ss1959966033	Feb 12, 2016 (147)
45	GENOMED	ss1969247163	Jul 19, 2016 (147)
46	JJLAB	ss2030166089	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2158776190	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2629581266	Nov 08, 2017 (151)
49	ILLUMINA	ss2633863025	Nov 08, 2017 (151)
50	GRF	ss2704519034	Nov 08, 2017 (151)
51	GNOMAD	ss2973003557	Nov 08, 2017 (151)
52	SWEGEN	ss3019088891	Nov 08, 2017 (151)
53	ILLUMINA	ss3022172211	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3028920742	Nov 08, 2017 (151)
55	CSHL	ss3352777075	Nov 08, 2017 (151)
56	ILLUMINA	ss3642211277	Oct 12, 2018 (152)
57	URBANLAB	ss3651152080	Oct 12, 2018 (152)
58	ILLUMINA	ss3652633771	Oct 12, 2018 (152)
59	EVA_DECODE	ss3707957987	Jul 13, 2019 (153)
60	ACPOP	ss3743824599	Jul 13, 2019 (153)
61	EVA	ss3759233009	Jul 13, 2019 (153)
62	PACBIO	ss3788793876	Jul 13, 2019 (153)
63	PACBIO	ss3793664913	Jul 13, 2019 (153)
64	PACBIO	ss3798551241	Jul 13, 2019 (153)
65	KHV_HUMAN_GENOMES	ss3822400482	Jul 13, 2019 (153)
66	EVA	ss3835928559	Apr 27, 2020 (154)
67	EVA	ss3841592650	Apr 27, 2020 (154)
68	EVA	ss3847107313	Apr 27, 2020 (154)
69	SGDP_PRJ	ss3890259684	Apr 27, 2020 (154)
70	KRGDB	ss3940644144	Apr 27, 2020 (154)
71	KOGIC	ss3983393186	Apr 27, 2020 (154)
72	TOPMED	ss5105161449	Apr 27, 2021 (155)
73	TOMMO_GENOMICS	ss5232047451	Apr 27, 2021 (155)
74	1000G_HIGH_COVERAGE	ss5310663184	Oct 16, 2022 (156)
75	HUGCELL_USP	ss5502573882	Oct 16, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5618024780	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5664239514	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5793000410	Oct 16, 2022 (156)
79	YY_MCH	ss5818597180	Oct 16, 2022 (156)
80	EVA	ss5821902320	Oct 16, 2022 (156)
81	EVA	ss5853346971	Oct 16, 2022 (156)
82	EVA	ss5881354584	Oct 16, 2022 (156)
83	EVA	ss5959111053	Oct 16, 2022 (156)
84	1000Genomes	NC_000022.10 - 20139299	Oct 12, 2018 (152)
85	1000Genomes_30x	NC_000022.11 - 20151776	Oct 16, 2022 (156)
86	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 20139299	Oct 12, 2018 (152)
87	The Danish reference pan genome	NC_000022.10 - 20139299	Apr 27, 2020 (154)
88	gnomAD - Genomes	NC_000022.11 - 20151776	Apr 27, 2021 (155)
89	Genome of the Netherlands Release 5	NC_000022.10 - 20139299	Apr 27, 2020 (154)
90	HapMap	NC_000022.11 - 20151776	Apr 27, 2020 (154)
91	KOREAN population from KRGDB	NC_000022.10 - 20139299	Apr 27, 2020 (154)
92	Korean Genome Project	NC_000022.11 - 20151776	Apr 27, 2020 (154)
93	Northern Sweden	NC_000022.10 - 20139299	Jul 13, 2019 (153)
94	Qatari	NC_000022.10 - 20139299	Apr 27, 2020 (154)
95	SGDP_PRJ	NC_000022.10 - 20139299	Apr 27, 2020 (154)
96	Siberian	NC_000022.10 - 20139299	Apr 27, 2020 (154)
97	8.3KJPN	NC_000022.10 - 20139299	Apr 27, 2021 (155)
98	14KJPN	NC_000022.11 - 20151776	Oct 16, 2022 (156)
99	TopMed	NC_000022.11 - 20151776	Apr 27, 2021 (155)
100	UK 10K study - Twins	NC_000022.10 - 20139299	Oct 12, 2018 (152)
101	ALFA	NC_000022.11 - 20151776	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).

Associated ID	History Updated (Build)
rs420514	Jan 18, 2001 (92)
rs1210759	Oct 23, 2000 (87)
rs1210774	Oct 23, 2000 (87)
rs36127370	Oct 16, 2006 (127)
rs60670417	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss79747336, ss82718089	NC_000022.8:18513852:C:T	NC_000022.11:20151775:C:T	(self)
ss112552396, ss114037667, ss117362576, ss167687002, ss168894779, ss171833813, ss204050903, ss208816899, ss283587652, ss287550349, ss292736554, ss484289547	NC_000022.9:18519298:C:T	NC_000022.11:20151775:C:T	(self)
80223741, 44385229, 5869716, 19775338, 47821538, 17109464, 20827731, 42276664, 11292544, 90016758, 44385229, ss228618794, ss238022933, ss244152137, ss479413271, ss566561648, ss662484789, ss780975233, ss995224381, ss1082571401, ss1366689135, ss1429220237, ss1579704777, ss1639756941, ss1682750974, ss1809734529, ss1938785809, ss1959966033, ss1969247163, ss2030166089, ss2158776190, ss2629581266, ss2633863025, ss2704519034, ss2973003557, ss3019088891, ss3022172211, ss3352777075, ss3642211277, ss3652633771, ss3743824599, ss3759233009, ss3788793876, ss3793664913, ss3798551241, ss3835928559, ss3841592650, ss3890259684, ss3940644144, ss5232047451, ss5664239514, ss5821902320, ss5959111053	NC_000022.10:20139298:C:T	NC_000022.11:20151775:C:T	(self)
105550715, 566586642, 2228223, 39771187, 126837514, 380270396, 4042186804, ss3028920742, ss3651152080, ss3707957987, ss3822400482, ss3847107313, ss3983393186, ss5105161449, ss5310663184, ss5502573882, ss5618024780, ss5793000410, ss5818597180, ss5853346971, ss5881354584	NC_000022.11:20151775:C:T	NC_000022.11:20151775:C:T	(self)
ss233200, ss554607, ss1264637, ss1750503, ss1750551, ss7994600, ss13378904, ss19502107, ss21840127, ss41502373, ss80750563, ss96092738, ss143090072	NT_011519.10:3291448:C:T	NC_000022.11:20151775:C:T	(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 rs175182

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

rs175182