Name: rs9966606
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.

rs9966606

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:74402241 (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: T=0.199788 (52882/264690, TOPMED)
T=0.202618 (28345/139894, GnomAD)
T=0.11158 (3153/28258, 14KJPN) (+ 15 more)
T=0.20749 (3919/18888, ALFA)
T=0.11002 (1844/16760, 8.3KJPN)
T=0.1943 (1244/6404, 1000G_30x)
T=0.1981 (992/5008, 1000G)
T=0.2084 (933/4478, Estonian)
T=0.2001 (771/3854, ALSPAC)
T=0.2063 (765/3708, TWINSUK)
T=0.1379 (403/2922, KOREAN)
T=0.215 (215/998, GoNL)
T=0.185 (111/600, NorthernSweden)
T=0.218 (47/216, Qatari)
T=0.084 (18/214, Vietnamese)
C=0.400 (56/140, SGDP_PRJ)
T=0.15 (6/40, GENOME_DK)
C=0.42 (5/12, Siberian)

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	18888	C=0.79251	T=0.20749
European	Sub	14284	C=0.78920	T=0.21080
African	Sub	2946	C=0.7933	T=0.2067
African Others	Sub	114	C=0.781	T=0.219
African American	Sub	2832	C=0.7938	T=0.2062
Asian	Sub	112	C=0.857	T=0.143
East Asian	Sub	86	C=0.88	T=0.12
Other Asian	Sub	26	C=0.77	T=0.23
Latin American 1	Sub	146	C=0.801	T=0.199
Latin American 2	Sub	610	C=0.870	T=0.130
South Asian	Sub	98	C=0.71	T=0.29
Other	Sub	692	C=0.788	T=0.212

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=0.800212	T=0.199788
gnomAD - Genomes	Global	Study-wide	139894	C=0.797382	T=0.202618
gnomAD - Genomes	European	Sub	75788	C=0.79311	T=0.20689
gnomAD - Genomes	African	Sub	41902	C=0.78901	T=0.21099
gnomAD - Genomes	American	Sub	13624	C=0.84476	T=0.15524
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.7372	T=0.2628
gnomAD - Genomes	East Asian	Sub	3118	C=0.8643	T=0.1357
gnomAD - Genomes	Other	Sub	2140	C=0.8070	T=0.1930
14KJPN	JAPANESE	Study-wide	28258	C=0.88842	T=0.11158
Allele Frequency Aggregator	Total	Global	18888	C=0.79251	T=0.20749
Allele Frequency Aggregator	European	Sub	14284	C=0.78920	T=0.21080
Allele Frequency Aggregator	African	Sub	2946	C=0.7933	T=0.2067
Allele Frequency Aggregator	Other	Sub	692	C=0.788	T=0.212
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.870	T=0.130
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.801	T=0.199
Allele Frequency Aggregator	Asian	Sub	112	C=0.857	T=0.143
Allele Frequency Aggregator	South Asian	Sub	98	C=0.71	T=0.29
8.3KJPN	JAPANESE	Study-wide	16760	C=0.88998	T=0.11002
1000Genomes_30x	Global	Study-wide	6404	C=0.8057	T=0.1943
1000Genomes_30x	African	Sub	1786	C=0.7839	T=0.2161
1000Genomes_30x	Europe	Sub	1266	C=0.8049	T=0.1951
1000Genomes_30x	South Asian	Sub	1202	C=0.7138	T=0.2862
1000Genomes_30x	East Asian	Sub	1170	C=0.8821	T=0.1179
1000Genomes_30x	American	Sub	980	C=0.868	T=0.132
1000Genomes	Global	Study-wide	5008	C=0.8019	T=0.1981
1000Genomes	African	Sub	1322	C=0.7769	T=0.2231
1000Genomes	East Asian	Sub	1008	C=0.8800	T=0.1200
1000Genomes	Europe	Sub	1006	C=0.7982	T=0.2018
1000Genomes	South Asian	Sub	978	C=0.709	T=0.291
1000Genomes	American	Sub	694	C=0.873	T=0.127
Genetic variation in the Estonian population	Estonian	Study-wide	4478	C=0.7916	T=0.2084
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7999	T=0.2001
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7937	T=0.2063
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.8621	T=0.1379
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.785	T=0.215
Northern Sweden	ACPOP	Study-wide	600	C=0.815	T=0.185
Qatari	Global	Study-wide	216	C=0.782	T=0.218
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.916	T=0.084
SGDP_PRJ	Global	Study-wide	140	C=0.400	T=0.600
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	T=0.15
Siberian	Global	Study-wide	12	C=0.42	T=0.58

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.74402241C>T
GRCh37.p13 chr 18	NC_000018.9:g.72069476C>T

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 18	NC_000018.10:g.74402241=	NC_000018.10:g.74402241C>T
GRCh37.p13 chr 18	NC_000018.9:g.72069476=	NC_000018.9:g.72069476C>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#.

49 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13807379	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss20061183	Feb 27, 2004 (120)
3	COMPLETE_GENOMICS	ss168523409	Jul 04, 2010 (132)
4	COMPLETE_GENOMICS	ss172002301	Jul 04, 2010 (132)
5	BCM-HGSC-SUB	ss208341183	Jul 04, 2010 (132)
6	GMI	ss283070786	May 04, 2012 (137)
7	GMI	ss287321554	Apr 25, 2013 (138)
8	1000GENOMES	ss340228321	May 09, 2011 (134)
9	TISHKOFF	ss565766434	Apr 25, 2013 (138)
10	SSMP	ss661610487	Apr 25, 2013 (138)
11	EVA-GONL	ss993941224	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1081662791	Aug 21, 2014 (142)
13	1000GENOMES	ss1361805193	Aug 21, 2014 (142)
14	EVA_GENOME_DK	ss1578495083	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1637299310	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1680293343	Apr 01, 2015 (144)
17	EVA_DECODE	ss1698005830	Apr 01, 2015 (144)
18	WEILL_CORNELL_DGM	ss1937410129	Feb 12, 2016 (147)
19	JJLAB	ss2029480730	Sep 14, 2016 (149)
20	USC_VALOUEV	ss2157988368	Dec 20, 2016 (150)
21	HUMAN_LONGEVITY	ss2223185329	Dec 20, 2016 (150)
22	SYSTEMSBIOZJU	ss2629239882	Nov 08, 2017 (151)
23	GRF	ss2702587115	Nov 08, 2017 (151)
24	GNOMAD	ss2958866284	Nov 08, 2017 (151)
25	SWEGEN	ss3016847074	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3028572085	Nov 08, 2017 (151)
27	CSHL	ss3352121684	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3683703057	Jul 13, 2019 (153)
29	EVA_DECODE	ss3702050474	Jul 13, 2019 (153)
30	ACPOP	ss3742725129	Jul 13, 2019 (153)
31	EVA	ss3755637292	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3820895628	Jul 13, 2019 (153)
33	EVA	ss3835275018	Apr 27, 2020 (154)
34	SGDP_PRJ	ss3887433121	Apr 27, 2020 (154)
35	KRGDB	ss3937336789	Apr 27, 2020 (154)
36	TOPMED	ss5063509017	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5226041005	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5305976588	Oct 16, 2022 (156)
39	EVA	ss5432672023	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5498683462	Oct 16, 2022 (156)
41	EVA	ss5512012307	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5611172145	Oct 16, 2022 (156)
43	SANFORD_IMAGENETICS	ss5661692852	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5784077673	Oct 16, 2022 (156)
45	YY_MCH	ss5817275225	Oct 16, 2022 (156)
46	EVA	ss5827820336	Oct 16, 2022 (156)
47	EVA	ss5852146033	Oct 16, 2022 (156)
48	EVA	ss5874873456	Oct 16, 2022 (156)
49	EVA	ss5953125928	Oct 16, 2022 (156)
50	1000Genomes	NC_000018.9 - 72069476	Oct 12, 2018 (152)
51	1000Genomes_30x	NC_000018.10 - 74402241	Oct 16, 2022 (156)
52	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 72069476	Oct 12, 2018 (152)
53	Genetic variation in the Estonian population	NC_000018.9 - 72069476	Oct 12, 2018 (152)
54	The Danish reference pan genome	NC_000018.9 - 72069476	Apr 27, 2020 (154)
55	gnomAD - Genomes	NC_000018.10 - 74402241	Apr 26, 2021 (155)
56	Genome of the Netherlands Release 5	NC_000018.9 - 72069476	Apr 27, 2020 (154)
57	KOREAN population from KRGDB	NC_000018.9 - 72069476	Apr 27, 2020 (154)
58	Northern Sweden	NC_000018.9 - 72069476	Jul 13, 2019 (153)
59	Qatari	NC_000018.9 - 72069476	Apr 27, 2020 (154)
60	SGDP_PRJ	NC_000018.9 - 72069476	Apr 27, 2020 (154)
61	Siberian	NC_000018.9 - 72069476	Apr 27, 2020 (154)
62	8.3KJPN	NC_000018.9 - 72069476	Apr 26, 2021 (155)
63	14KJPN	NC_000018.10 - 74402241	Oct 16, 2022 (156)
64	TopMed	NC_000018.10 - 74402241	Apr 26, 2021 (155)
65	UK 10K study - Twins	NC_000018.9 - 72069476	Oct 12, 2018 (152)
66	A Vietnamese Genetic Variation Database	NC_000018.9 - 72069476	Jul 13, 2019 (153)
67	ALFA	NC_000018.10 - 74402241	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
ss168523409, ss172002301, ss208341183, ss283070786, ss287321554, ss1698005830	NC_000018.8:70220455:C:T	NC_000018.10:74402240:C:T	(self)
75163041, 41665315, 29441305, 4683427, 18563936, 44514183, 16009994, 19452051, 39450101, 10504722, 84010312, 41665315, 9213300, ss340228321, ss565766434, ss661610487, ss993941224, ss1081662791, ss1361805193, ss1578495083, ss1637299310, ss1680293343, ss1937410129, ss2029480730, ss2157988368, ss2629239882, ss2702587115, ss2958866284, ss3016847074, ss3352121684, ss3683703057, ss3742725129, ss3755637292, ss3835275018, ss3887433121, ss3937336789, ss5226041005, ss5432672023, ss5512012307, ss5661692852, ss5827820336, ss5953125928	NC_000018.9:72069475:C:T	NC_000018.10:74402240:C:T	(self)
98698080, 530122928, 117914777, 279054680, 184320738, ss2223185329, ss3028572085, ss3702050474, ss3820895628, ss5063509017, ss5305976588, ss5498683462, ss5611172145, ss5784077673, ss5817275225, ss5852146033, ss5874873456	NC_000018.10:74402240:C:T	NC_000018.10:74402240:C:T	(self)
ss13807379, ss20061183	NT_025028.13:19860321:C:T	NC_000018.10:74402240: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 rs9966606

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

rs9966606