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dbSNP Short Genetic Variations

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 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:20151776 (GRCh38.p13) 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)
C=0.37608 (8179/21748, ALFA) (+ 13 more)
T=0.48890 (8192/16756, 8.3KJPN)
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 : 5 Prime UTR Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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.p13 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)
Molecule type Change Amino acid[Codon] SO Term
CCDC188 transcript NM_001365892.2:c. N/A Genic Upstream Transcript Variant
CCDC188 transcript variant X1 XM_005261238.3:c.-790= N/A 5 Prime UTR Variant
CCDC188 transcript variant X2 XM_005261239.3:c.-790= N/A 5 Prime UTR Variant
CCDC188 transcript variant X4 XM_011530170.2:c.-790= N/A 5 Prime UTR Variant
CCDC188 transcript variant X5 XM_011530171.2:c.-790= N/A 5 Prime UTR Variant
CCDC188 transcript variant X6 XM_005261241.3:c.-790= N/A 5 Prime UTR Variant
Help

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

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: 20201027095038
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


Help

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").

Download
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
8.3KJPN JAPANESE Study-wide 16756 C=0.51110 T=0.48890
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
Help

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.p13 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
CCDC188 transcript variant X1 XM_005261238.3:c.-790= XM_005261238.3:c.-790G>A
CCDC188 transcript variant X2 XM_005261239.3:c.-790= XM_005261239.3:c.-790G>A
CCDC188 transcript variant X6 XM_005261241.3:c.-790= XM_005261241.3:c.-790G>A
CCDC188 transcript variant X5 XM_011530171.2:c.-790= XM_011530171.2:c.-790G>A
CCDC188 transcript variant X4 XM_011530170.2:c.-790= XM_011530170.2:c.-790G>A
Help

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, 16 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 TOPMED ss2413297143 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2629581266 Nov 08, 2017 (151)
50 ILLUMINA ss2633863025 Nov 08, 2017 (151)
51 GRF ss2704519034 Nov 08, 2017 (151)
52 GNOMAD ss2973003557 Nov 08, 2017 (151)
53 SWEGEN ss3019088891 Nov 08, 2017 (151)
54 ILLUMINA ss3022172211 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3028920742 Nov 08, 2017 (151)
56 CSHL ss3352777075 Nov 08, 2017 (151)
57 TOPMED ss3374099921 Nov 08, 2017 (151)
58 ILLUMINA ss3642211277 Oct 12, 2018 (152)
59 URBANLAB ss3651152080 Oct 12, 2018 (152)
60 ILLUMINA ss3652633771 Oct 12, 2018 (152)
61 EVA_DECODE ss3707957987 Jul 13, 2019 (153)
62 ACPOP ss3743824599 Jul 13, 2019 (153)
63 EVA ss3759233009 Jul 13, 2019 (153)
64 PACBIO ss3788793876 Jul 13, 2019 (153)
65 PACBIO ss3793664913 Jul 13, 2019 (153)
66 PACBIO ss3798551241 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3822400482 Jul 13, 2019 (153)
68 EVA ss3835928559 Apr 27, 2020 (154)
69 EVA ss3841592650 Apr 27, 2020 (154)
70 EVA ss3847107313 Apr 27, 2020 (154)
71 SGDP_PRJ ss3890259684 Apr 27, 2020 (154)
72 KRGDB ss3940644144 Apr 27, 2020 (154)
73 KOGIC ss3983393186 Apr 27, 2020 (154)
74 TOPMED ss5105161449 Apr 27, 2021 (155)
75 TOMMO_GENOMICS ss5232047451 Apr 27, 2021 (155)
76 1000Genomes NC_000022.10 - 20139299 Oct 12, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 20139299 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000022.10 - 20139299 Apr 27, 2020 (154)
79 gnomAD - Genomes NC_000022.11 - 20151776 Apr 27, 2021 (155)
80 Genome of the Netherlands Release 5 NC_000022.10 - 20139299 Apr 27, 2020 (154)
81 HapMap NC_000022.11 - 20151776 Apr 27, 2020 (154)
82 KOREAN population from KRGDB NC_000022.10 - 20139299 Apr 27, 2020 (154)
83 Korean Genome Project NC_000022.11 - 20151776 Apr 27, 2020 (154)
84 Northern Sweden NC_000022.10 - 20139299 Jul 13, 2019 (153)
85 Qatari NC_000022.10 - 20139299 Apr 27, 2020 (154)
86 SGDP_PRJ NC_000022.10 - 20139299 Apr 27, 2020 (154)
87 Siberian NC_000022.10 - 20139299 Apr 27, 2020 (154)
88 8.3KJPN NC_000022.10 - 20139299 Apr 27, 2021 (155)
89 TopMed NC_000022.11 - 20151776 Apr 27, 2021 (155)
90 UK 10K study - Twins NC_000022.10 - 20139299 Oct 12, 2018 (152)
91 ALFA NC_000022.11 - 20151776 Apr 27, 2021 (155)
Help

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, ss2413297143, ss2629581266, ss2633863025, ss2704519034, ss2973003557, ss3019088891, ss3022172211, ss3352777075, ss3642211277, ss3652633771, ss3743824599, ss3759233009, ss3788793876, ss3793664913, ss3798551241, ss3835928559, ss3841592650, ss3890259684, ss3940644144, ss5232047451 NC_000022.10:20139298:C:T NC_000022.11:20151775:C:T (self)
566586642, 2228223, 39771187, 237477573, 380270396, 4042186804, ss3028920742, ss3374099921, ss3651152080, ss3707957987, ss3822400482, ss3847107313, ss3983393186, ss5105161449 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)
Help

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

Help

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.

Software version is: 2.0.1.post596+ae089ad