Name: rs150110151
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.

rs150110151

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:65150553 (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=0.016725 (4427/264690, TOPMED)
T=0.014970 (2097/140084, GnomAD)
T=0.00004 (1/28258, 14KJPN) (+ 11 more)
T=0.00006 (1/16760, 8.3KJPN)
T=0.01130 (163/14420, ALFA)
T=0.0159 (102/6404, 1000G_30x)
T=0.0158 (79/5008, 1000G)
T=0.0010 (4/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.0000 (0/2922, KOREAN)
T=0.0005 (1/1832, Korea1K)
T=0.005 (1/216, Qatari)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS9 : 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	14420	C=0.98870	T=0.01130
European	Sub	9824	C=0.9988	T=0.0012
African	Sub	2946	C=0.9535	T=0.0465
African Others	Sub	114	C=0.956	T=0.044
African American	Sub	2832	C=0.9534	T=0.0466
Asian	Sub	112	C=1.000	T=0.000
East Asian	Sub	86	C=1.00	T=0.00
Other Asian	Sub	26	C=1.00	T=0.00
Latin American 1	Sub	146	C=0.986	T=0.014
Latin American 2	Sub	610	C=0.997	T=0.003
South Asian	Sub	98	C=1.00	T=0.00
Other	Sub	684	C=0.985	T=0.015

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=0.983275	T=0.016725
gnomAD - Genomes	Global	Study-wide	140084	C=0.985030	T=0.014970
gnomAD - Genomes	European	Sub	75892	C=0.99928	T=0.00072
gnomAD - Genomes	African	Sub	41952	C=0.95335	T=0.04665
gnomAD - Genomes	American	Sub	13638	C=0.99589	T=0.00411
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3134	C=0.9994	T=0.0006
gnomAD - Genomes	Other	Sub	2150	C=0.9874	T=0.0126
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
Allele Frequency Aggregator	Total	Global	14420	C=0.98870	T=0.01130
Allele Frequency Aggregator	European	Sub	9824	C=0.9988	T=0.0012
Allele Frequency Aggregator	African	Sub	2946	C=0.9535	T=0.0465
Allele Frequency Aggregator	Other	Sub	684	C=0.985	T=0.015
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.997	T=0.003
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.986	T=0.014
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9841	T=0.0159
1000Genomes_30x	African	Sub	1786	C=0.9446	T=0.0554
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9991	T=0.0009
1000Genomes_30x	American	Sub	980	C=0.998	T=0.002
1000Genomes	Global	Study-wide	5008	C=0.9842	T=0.0158
1000Genomes	African	Sub	1322	C=0.9418	T=0.0582
1000Genomes	East Asian	Sub	1008	C=0.9990	T=0.0010
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.999	T=0.001
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9990	T=0.0010
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9997	T=0.0003
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=1.0000	T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9995	T=0.0005
Qatari	Global	Study-wide	216	C=0.995	T=0.005
SGDP_PRJ	Global	Study-wide	6	C=0.5	T=0.5

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.65150553C>T
GRCh37.p13 chr 17	NC_000017.10:g.63146671C>T
RGS9 RefSeqGene	NG_013021.2:g.18216C>T

Gene: RGS9, regulator of G protein signaling 9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS9 transcript variant 2	NM_001081955.3:c.58-2869C… NM_001081955.3:c.58-2869C>T	N/A	Intron Variant
RGS9 transcript variant 3	NM_001165933.2:c.58-2869C… NM_001165933.2:c.58-2869C>T	N/A	Intron Variant
RGS9 transcript variant 1	NM_003835.4:c.58-2869C>T	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	C=	T
GRCh38.p14 chr 17	NC_000017.11:g.65150553=	NC_000017.11:g.65150553C>T
GRCh37.p13 chr 17	NC_000017.10:g.63146671=	NC_000017.10:g.63146671C>T
RGS9 RefSeqGene	NG_013021.2:g.18216=	NG_013021.2:g.18216C>T
RGS9 transcript variant 2	NM_001081955.2:c.58-2869=	NM_001081955.2:c.58-2869C>T
RGS9 transcript variant 2	NM_001081955.3:c.58-2869=	NM_001081955.3:c.58-2869C>T
RGS9 transcript variant 3	NM_001165933.1:c.58-2869=	NM_001165933.1:c.58-2869C>T
RGS9 transcript variant 3	NM_001165933.2:c.58-2869=	NM_001165933.2:c.58-2869C>T
RGS9 transcript variant 1	NM_003835.3:c.58-2869=	NM_003835.3:c.58-2869C>T
RGS9 transcript variant 1	NM_003835.4:c.58-2869=	NM_003835.4:c.58-2869C>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#.

25 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss339797192	May 09, 2011 (134)
2	TISHKOFF	ss565358803	Apr 25, 2013 (138)
3	1000GENOMES	ss1359248640	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1635950413	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1678944446	Apr 01, 2015 (144)
6	EVA_DECODE	ss1697304515	Apr 01, 2015 (144)
7	WEILL_CORNELL_DGM	ss1936717551	Feb 12, 2016 (147)
8	HUMAN_LONGEVITY	ss2218029742	Dec 20, 2016 (150)
9	GNOMAD	ss2951635934	Nov 08, 2017 (151)
10	EVA_DECODE	ss3700764642	Jul 13, 2019 (153)
11	EVA	ss3754840868	Jul 13, 2019 (153)
12	KHV_HUMAN_GENOMES	ss3820106891	Jul 13, 2019 (153)
13	SGDP_PRJ	ss3886059458	Apr 27, 2020 (154)
14	KRGDB	ss3935810592	Apr 27, 2020 (154)
15	KOGIC	ss3979143739	Apr 27, 2020 (154)
16	TOPMED	ss5041338288	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5223133136	Apr 26, 2021 (155)
18	1000G_HIGH_COVERAGE	ss5303669916	Oct 16, 2022 (156)
19	EVA	ss5428553129	Oct 16, 2022 (156)
20	HUGCELL_USP	ss5496657089	Oct 16, 2022 (156)
21	1000G_HIGH_COVERAGE	ss5607652481	Oct 16, 2022 (156)
22	SANFORD_IMAGENETICS	ss5660395980	Oct 16, 2022 (156)
23	TOMMO_GENOMICS	ss5779572944	Oct 16, 2022 (156)
24	EVA	ss5914528983	Oct 16, 2022 (156)
25	EVA	ss5951790227	Oct 16, 2022 (156)
26	1000Genomes	NC_000017.10 - 63146671	Oct 12, 2018 (152)
27	1000Genomes_30x	NC_000017.11 - 65150553	Oct 16, 2022 (156)
28	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 63146671	Oct 12, 2018 (152)
29	gnomAD - Genomes	NC_000017.11 - 65150553	Apr 26, 2021 (155)
30	KOREAN population from KRGDB	NC_000017.10 - 63146671	Apr 27, 2020 (154)
31	Korean Genome Project	NC_000017.11 - 65150553	Apr 27, 2020 (154)
32	Qatari	NC_000017.10 - 63146671	Apr 27, 2020 (154)
33	SGDP_PRJ	NC_000017.10 - 63146671	Apr 27, 2020 (154)
34	8.3KJPN	NC_000017.10 - 63146671	Apr 26, 2021 (155)
35	14KJPN	NC_000017.11 - 65150553	Oct 16, 2022 (156)
36	TopMed	NC_000017.11 - 65150553	Apr 26, 2021 (155)
37	UK 10K study - Twins	NC_000017.10 - 63146671	Oct 12, 2018 (152)
38	ALFA	NC_000017.11 - 65150553	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
ss1697304515	NC_000017.9:60577132:C:T	NC_000017.11:65150552:C:T	(self)
72513405, 40179575, 42987986, 18759473, 38076438, 81102443, 40179575, ss339797192, ss565358803, ss1359248640, ss1635950413, ss1678944446, ss1936717551, ss2951635934, ss3754840868, ss3886059458, ss3935810592, ss5223133136, ss5428553129, ss5660395980, ss5951790227	NC_000017.10:63146670:C:T	NC_000017.11:65150552:C:T	(self)
95178416, 511760242, 35521740, 113410048, 256883950, 9851931122, ss2218029742, ss3700764642, ss3820106891, ss3979143739, ss5041338288, ss5303669916, ss5496657089, ss5607652481, ss5779572944, ss5914528983	NC_000017.11:65150552:C:T	NC_000017.11:65150552: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 rs150110151

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

rs150110151