Name: rs186
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.

rs186

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:24987083 (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: delG
Variation Type: Deletion
Frequency: G=0.328830 (87038/264690, TOPMED)
G=0.327557 (45820/139884, GnomAD)
G=0.48047 (13577/28258, 14KJPN) (+ 12 more)
G=0.48305 (8095/16758, 8.3KJPN)
G=0.4916 (3964/8064, ALFA)
G=0.3834 (2455/6404, 1000G_30x)
G=0.3876 (1941/5008, 1000G)
G=0.3904 (1749/4480, Estonian)
G=0.3682 (1419/3854, ALSPAC)
G=0.3557 (1319/3708, TWINSUK)
delG=0.4945 (906/1832, Korea1K)
G=0.397 (396/998, GoNL)
G=0.382 (229/600, NorthernSweden)
G=0.435 (93/214, Vietnamese)
delG=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	8064	G=0.4916	=0.5084
European	Sub	7558	G=0.4696	=0.5304
African	Sub	240	G=0.742	=0.258
African Others	Sub	10	G=0.4	=0.6
African American	Sub	230	G=0.757	=0.243
Asian	Sub	26	G=0.92	=0.08
East Asian	Sub	24	G=1.00	=0.00
Other Asian	Sub	2	G=0.0	=1.0
Latin American 1	Sub	10	G=1.0	=0.0
Latin American 2	Sub	108	G=1.000	=0.000
South Asian	Sub	34	G=0.88	=0.12
Other	Sub	88	G=0.74	=0.26

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=0.328830	delG=0.671170
gnomAD - Genomes	Global	Study-wide	139884	G=0.327557	delG=0.672443
gnomAD - Genomes	European	Sub	75774	G=0.36571	delG=0.63429
gnomAD - Genomes	African	Sub	41874	G=0.23647	delG=0.76353
gnomAD - Genomes	American	Sub	13640	G=0.35337	delG=0.64663
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.3611	delG=0.6389
gnomAD - Genomes	East Asian	Sub	3128	G=0.4738	delG=0.5262
gnomAD - Genomes	Other	Sub	2148	G=0.3287	delG=0.6713
14KJPN	JAPANESE	Study-wide	28258	G=0.48047	delG=0.51953
8.3KJPN	JAPANESE	Study-wide	16758	G=0.48305	delG=0.51695
Allele Frequency Aggregator	Total	Global	8064	G=0.4916	delG=0.5084
Allele Frequency Aggregator	European	Sub	7558	G=0.4696	delG=0.5304
Allele Frequency Aggregator	African	Sub	240	G=0.742	delG=0.258
Allele Frequency Aggregator	Latin American 2	Sub	108	G=1.000	delG=0.000
Allele Frequency Aggregator	Other	Sub	88	G=0.74	delG=0.26
Allele Frequency Aggregator	South Asian	Sub	34	G=0.88	delG=0.12
Allele Frequency Aggregator	Asian	Sub	26	G=0.92	delG=0.08
Allele Frequency Aggregator	Latin American 1	Sub	10	G=1.0	delG=0.0
1000Genomes_30x	Global	Study-wide	6404	G=0.3834	delG=0.6166
1000Genomes_30x	African	Sub	1786	G=0.2279	delG=0.7721
1000Genomes_30x	Europe	Sub	1266	G=0.3555	delG=0.6445
1000Genomes_30x	South Asian	Sub	1202	G=0.5416	delG=0.4584
1000Genomes_30x	East Asian	Sub	1170	G=0.4983	delG=0.5017
1000Genomes_30x	American	Sub	980	G=0.371	delG=0.629
1000Genomes	Global	Study-wide	5008	G=0.3876	delG=0.6124
1000Genomes	African	Sub	1322	G=0.2315	delG=0.7685
1000Genomes	East Asian	Sub	1008	G=0.4911	delG=0.5089
1000Genomes	Europe	Sub	1006	G=0.3598	delG=0.6402
1000Genomes	South Asian	Sub	978	G=0.534	delG=0.466
1000Genomes	American	Sub	694	G=0.369	delG=0.631
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3904	delG=0.6096
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3682	delG=0.6318
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3557	delG=0.6443
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5055	delG=0.4945
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.397	delG=0.603
Northern Sweden	ACPOP	Study-wide	600	G=0.382	delG=0.618
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.435	delG=0.565
The Danish reference pan genome	Danish	Study-wide	40	G=0.55	delG=0.45

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 7	NC_000007.14:g.24987083del
GRCh37.p13 chr 7	NC_000007.13:g.25026702del

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	G=	delG
GRCh38.p14 chr 7	NC_000007.14:g.24987083=	NC_000007.14:g.24987083del
GRCh37.p13 chr 7	NC_000007.13:g.25026702=	NC_000007.13:g.25026702del

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#.

59 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss186	Sep 19, 2000 (36)
2	ABI	ss43029533	Mar 13, 2006 (126)
3	HGSV	ss83063684	Dec 15, 2007 (130)
4	HUMANGENOME_JCVI	ss95455248	Feb 05, 2009 (130)
5	DEVINE_LAB	ss100138730	Mar 15, 2016 (147)
6	BUSHMAN	ss193910882	Jul 04, 2010 (132)
7	GMI	ss287809530	May 09, 2011 (134)
8	GMI	ss288829961	May 04, 2012 (137)
9	PJP	ss295328256	May 09, 2011 (134)
10	1000GENOMES	ss326915174	Aug 21, 2014 (142)
11	1000GENOMES	ss326966702	Aug 21, 2014 (142)
12	1000GENOMES	ss327246794	Aug 21, 2014 (142)
13	1000GENOMES	ss499808005	May 04, 2012 (137)
14	LUNTER	ss551714307	Apr 25, 2013 (138)
15	LUNTER	ss551918327	Apr 25, 2013 (138)
16	LUNTER	ss553289460	Apr 25, 2013 (138)
17	TISHKOFF	ss554327898	Apr 25, 2013 (138)
18	SSMP	ss663768976	Apr 01, 2015 (144)
19	BILGI_BIOE	ss666390976	Apr 25, 2013 (138)
20	EVA-GONL	ss984064603	Aug 21, 2014 (142)
21	1000GENOMES	ss1376862231	Aug 21, 2014 (142)
22	EVA_GENOME_DK	ss1576960150	Apr 01, 2015 (144)
23	EVA_DECODE	ss1593633495	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1705557419	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1705557442	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1804917016	Sep 08, 2015 (146)
27	GENOMED	ss1970651719	Jul 19, 2016 (147)
28	JJLAB	ss2030828123	Sep 14, 2016 (149)
29	SYSTEMSBIOZJU	ss2626654907	Nov 08, 2017 (151)
30	GNOMAD	ss2850934529	Nov 08, 2017 (151)
31	SWEGEN	ss3000794894	Nov 08, 2017 (151)
32	MCHAISSO	ss3065127195	Nov 08, 2017 (151)
33	MCHAISSO	ss3066132815	Nov 08, 2017 (151)
34	BEROUKHIMLAB	ss3644233719	Oct 12, 2018 (152)
35	BIOINF_KMB_FNS_UNIBA	ss3646016583	Oct 12, 2018 (152)
36	URBANLAB	ss3648585912	Oct 12, 2018 (152)
37	EGCUT_WGS	ss3668723742	Jul 13, 2019 (153)
38	EVA_DECODE	ss3719305418	Jul 13, 2019 (153)
39	ACPOP	ss3734452305	Jul 13, 2019 (153)
40	PACBIO	ss3785760859	Jul 13, 2019 (153)
41	PACBIO	ss3791071282	Jul 13, 2019 (153)
42	PACBIO	ss3795951037	Jul 13, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3809484821	Jul 13, 2019 (153)
44	EVA	ss3830470793	Apr 26, 2020 (154)
45	EVA	ss3838722682	Apr 26, 2020 (154)
46	EVA	ss3844173942	Apr 26, 2020 (154)
47	KOGIC	ss3961078492	Apr 26, 2020 (154)
48	TOPMED	ss4739196055	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5182271503	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5272194183	Oct 14, 2022 (156)
51	HUGCELL_USP	ss5469442639	Oct 14, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5560020152	Oct 14, 2022 (156)
53	SANFORD_IMAGENETICS	ss5642557400	Oct 14, 2022 (156)
54	TOMMO_GENOMICS	ss5721854328	Oct 14, 2022 (156)
55	YY_MCH	ss5808428013	Oct 14, 2022 (156)
56	EVA	ss5822551787	Oct 14, 2022 (156)
57	EVA	ss5855809591	Oct 14, 2022 (156)
58	EVA	ss5858125458	Oct 14, 2022 (156)
59	EVA	ss5971758027	Oct 14, 2022 (156)
60	1000Genomes	NC_000007.13 - 25026702	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000007.14 - 24987083	Oct 14, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 25026702	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000007.13 - 25026702	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000007.13 - 25026702	Apr 26, 2020 (154)
65	gnomAD - Genomes	NC_000007.14 - 24987083	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000007.13 - 25026702	Apr 26, 2020 (154)
67	Korean Genome Project	NC_000007.14 - 24987083	Apr 26, 2020 (154)
68	Northern Sweden	NC_000007.13 - 25026702	Jul 13, 2019 (153)
69	8.3KJPN	NC_000007.13 - 25026702	Apr 26, 2021 (155)
70	14KJPN	NC_000007.14 - 24987083	Oct 14, 2022 (156)
71	TopMed	NC_000007.14 - 24987083	Apr 26, 2021 (155)
72	UK 10K study - Twins	NC_000007.13 - 25026702	Oct 12, 2018 (152)
73	A Vietnamese Genetic Variation Database	NC_000007.13 - 25026702	Jul 13, 2019 (153)
74	ALFA	NC_000007.14 - 24987083	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)
rs58818628	May 24, 2008 (130)
rs869212342	Jul 19, 2016 (147)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83063684	NC_000007.11:24799941:G:	NC_000007.14:24987082:G:	(self)
ss288829961, ss295328256, ss326915174, ss326966702, ss327246794, ss551714307, ss551918327, ss553289460, ss1593633495	NC_000007.12:24993226:G:	NC_000007.14:24987082:G:	(self)
36290011, 20231298, 14461990, 1138918, 9020235, 7737170, 40240810, 20231298, 4507843, ss499808005, ss554327898, ss663768976, ss666390976, ss984064603, ss1376862231, ss1576960150, ss1705557419, ss1705557442, ss1804917016, ss1970651719, ss2030828123, ss2626654907, ss2850934529, ss3000794894, ss3644233719, ss3668723742, ss3734452305, ss3785760859, ss3791071282, ss3795951037, ss3830470793, ss3838722682, ss5182271503, ss5642557400, ss5822551787, ss5971758027	NC_000007.13:25026701:G:	NC_000007.14:24987082:G:	(self)
47546087, 255885670, 17456493, 55691432, 576573614, 12637564425, ss3065127195, ss3066132815, ss3646016583, ss3648585912, ss3719305418, ss3809484821, ss3844173942, ss3961078492, ss4739196055, ss5272194183, ss5469442639, ss5560020152, ss5721854328, ss5808428013, ss5855809591, ss5858125458	NC_000007.14:24987082:G:	NC_000007.14:24987082:G:	(self)
ss186, ss43029533, ss95455248, ss100138730, ss287809530	NT_007819.17:25016701:G:	NC_000007.14:24987082:G:	(self)
ss193910882	NT_007819.18:24977082:G:	NC_000007.14:24987082: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 rs186

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

rs186