Name: rs9617507
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.

rs9617507

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:15915724 (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>A / C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.077993 (10552/135294, GnomAD)
G=0.03337 (492/14744, ALFA)
G=0.1202 (770/6404, 1000G_30x) (+ 7 more)
G=0.1909 (559/2928, KOREAN)
G=0.1957 (357/1824, Korea1K)
G=0.128 (77/600, NorthernSweden)
G=0.065 (14/216, Qatari)
C=0.500 (66/132, SGDP_PRJ)
G=0.500 (66/132, SGDP_PRJ)
G=0.15 (6/40, 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	14744	C=0.96663	A=0.00000, G=0.03337
European	Sub	10830	C=0.95466	A=0.00000, G=0.04534
African	Sub	2688	C=1.0000	A=0.0000, G=0.0000
African Others	Sub	104	C=1.000	A=0.000, G=0.000
African American	Sub	2584	C=1.0000	A=0.0000, G=0.0000
Asian	Sub	74	C=1.00	A=0.00, G=0.00
East Asian	Sub	52	C=1.00	A=0.00, G=0.00
Other Asian	Sub	22	C=1.00	A=0.00, G=0.00
Latin American 1	Sub	114	C=1.000	A=0.000, G=0.000
Latin American 2	Sub	372	C=1.000	A=0.000, G=0.000
South Asian	Sub	78	C=1.00	A=0.00, G=0.00
Other	Sub	588	C=0.998	A=0.000, G=0.002

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
gnomAD - Genomes	Global	Study-wide	135294	C=0.922007	G=0.077993
gnomAD - Genomes	European	Sub	72864	C=0.91108	G=0.08892
gnomAD - Genomes	African	Sub	41388	C=0.97004	G=0.02996
gnomAD - Genomes	American	Sub	12868	C=0.85227	G=0.14773
gnomAD - Genomes	Ashkenazi Jewish	Sub	3232	C=0.9434	G=0.0566
gnomAD - Genomes	East Asian	Sub	2894	C=0.7999	G=0.2001
gnomAD - Genomes	Other	Sub	2048	C=0.9170	G=0.0830
Allele Frequency Aggregator	Total	Global	14744	C=0.96663	A=0.00000, G=0.03337
Allele Frequency Aggregator	European	Sub	10830	C=0.95466	A=0.00000, G=0.04534
Allele Frequency Aggregator	African	Sub	2688	C=1.0000	A=0.0000, G=0.0000
Allele Frequency Aggregator	Other	Sub	588	C=0.998	A=0.000, G=0.002
Allele Frequency Aggregator	Latin American 2	Sub	372	C=1.000	A=0.000, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	114	C=1.000	A=0.000, G=0.000
Allele Frequency Aggregator	South Asian	Sub	78	C=1.00	A=0.00, G=0.00
Allele Frequency Aggregator	Asian	Sub	74	C=1.00	A=0.00, G=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.8798	G=0.1202
1000Genomes_30x	African	Sub	1786	C=0.9770	G=0.0230
1000Genomes_30x	Europe	Sub	1266	C=0.8926	G=0.1074
1000Genomes_30x	South Asian	Sub	1202	C=0.9035	G=0.0965
1000Genomes_30x	East Asian	Sub	1170	C=0.7675	G=0.2325
1000Genomes_30x	American	Sub	980	C=0.791	G=0.209
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.8091	G=0.1909
Korean Genome Project	KOREAN	Study-wide	1824	C=0.8043	G=0.1957
Northern Sweden	ACPOP	Study-wide	600	C=0.872	G=0.128
Qatari	Global	Study-wide	216	C=0.935	G=0.065
SGDP_PRJ	Global	Study-wide	132	C=0.500	G=0.500
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	G=0.15

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.15915724C>A
GRCh38.p14 chr 22	NC_000022.11:g.15915724C>G
GRCh37.p13 chr 22	NC_000022.10:g.16062233G>T
GRCh37.p13 chr 22	NC_000022.10:g.16062233G>C
GRCh37.p13 chr 22 fix patch HG1487_PATCH	NW_004070874.1:g.25461C>A
GRCh37.p13 chr 22 fix patch HG1487_PATCH	NW_004070874.1:g.25461C>G

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=	A	G
GRCh38.p14 chr 22	NC_000022.11:g.15915724=	NC_000022.11:g.15915724C>A	NC_000022.11:g.15915724C>G
GRCh37.p13 chr 22	NC_000022.10:g.16062233=	NC_000022.10:g.16062233G>T	NC_000022.10:g.16062233G>C
GRCh37.p13 chr 22 fix patch HG1487_PATCH	NW_004070874.1:g.25461=	NW_004070874.1:g.25461C>A	NW_004070874.1:g.25461C>G

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#.

24 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13378404	Dec 05, 2003 (119)
2	ILLUMINA	ss159678183	Dec 01, 2009 (131)
3	GMI	ss283569569	May 04, 2012 (144)
4	SSMP	ss662459157	Apr 25, 2013 (144)
5	EVA_GENOME_DK	ss1579693702	Apr 09, 2015 (144)
6	WEILL_CORNELL_DGM	ss1938750591	Feb 17, 2016 (147)
7	GENOMED	ss1969241820	Sep 28, 2016 (149)
8	JJLAB	ss2030149791	Sep 28, 2016 (149)
9	GRF	ss2704488549	Nov 08, 2017 (151)
10	GNOMAD	ss2972603889	Nov 08, 2017 (151)
11	SWEGEN	ss3019014078	Nov 08, 2017 (151)
12	ACPOP	ss3743799131	Jul 13, 2019 (153)
13	SGDP_PRJ	ss3890171798	Apr 27, 2020 (154)
14	KRGDB	ss3940528921	Apr 27, 2020 (154)
15	KOGIC	ss3983320188	Apr 27, 2020 (154)
16	TOMMO_GENOMICS	ss5231871035	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5231871036	Apr 26, 2021 (155)
18	1000G_HIGH_COVERAGE	ss5310552695	Oct 13, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5617861119	Oct 13, 2022 (156)
20	SANFORD_IMAGENETICS	ss5664164660	Oct 13, 2022 (156)
21	TOMMO_GENOMICS	ss5792773838	Oct 13, 2022 (156)
22	TOMMO_GENOMICS	ss5792773839	Oct 13, 2022 (156)
23	YY_MCH	ss5818561312	Oct 13, 2022 (156)
24	EVA	ss5821859982	Oct 13, 2022 (156)
25	1000Genomes_30x	NC_000022.11 - 15915724	Oct 13, 2022 (156)
26	The Danish reference pan genome	NC_000022.10 - 16062233	Apr 27, 2020 (154)
27	gnomAD - Genomes	NC_000022.11 - 15915724	Apr 26, 2021 (155)
28	KOREAN population from KRGDB	NC_000022.10 - 16062233	Apr 27, 2020 (154)
29	Korean Genome Project	NC_000022.11 - 15915724	Apr 27, 2020 (154)
30	Northern Sweden	NC_000022.10 - 16062233	Jul 13, 2019 (153)
31	Qatari	NC_000022.10 - 16062233	Apr 27, 2020 (154)
32	SGDP_PRJ	NC_000022.10 - 16062233	Apr 27, 2020 (154)
33	8.3KJPN Submission ignored due to conflicting rows: Row 89840342 (NC_000022.10:16062232:G:C 2936/16760) Row 89840343 (NC_000022.10:16062232:G:T 1/16760)	-	Apr 26, 2021 (155)
34	8.3KJPN Submission ignored due to conflicting rows: Row 89840342 (NC_000022.10:16062232:G:C 2936/16760) Row 89840343 (NC_000022.10:16062232:G:T 1/16760)	-	Apr 26, 2021 (155)
35	14KJPN Submission ignored due to conflicting rows: Row 126610942 (NC_000022.11:15915723:C:G 5063/28258) Row 126610943 (NC_000022.11:15915723:C:A 1/28258)	-	Oct 13, 2022 (156)
36	14KJPN Submission ignored due to conflicting rows: Row 126610942 (NC_000022.11:15915723:C:G 5063/28258) Row 126610943 (NC_000022.11:15915723:C:A 1/28258)	-	Oct 13, 2022 (156)
37	ALFA	NC_000022.11 - 15915724	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)
rs200823944	Apr 09, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5231871036	NC_000022.10:16062232:G:T	NC_000022.11:15915723:C:A	(self)
1393811547, ss5792773839	NC_000022.11:15915723:C:A	NC_000022.11:15915723:C:A	(self)
ss283569569	NC_000022.9:14442232:G:C	NC_000022.11:15915723:C:G	(self)
5858641, 47706315, 17083996, 20792513, 42188778, ss662459157, ss1579693702, ss1938750591, ss1969241820, ss2030149791, ss2704488549, ss2972603889, ss3019014078, ss3743799131, ss3890171798, ss3940528921, ss5231871035, ss5664164660, ss5821859982	NC_000022.10:16062232:G:C	NC_000022.11:15915723:C:G	(self)
105387054, 565731490, 39698189, 1393811547, ss3983320188, ss5310552695, ss5617861119, ss5792773838, ss5818561312	NC_000022.11:15915723:C:G	NC_000022.11:15915723:C:G	(self)
ss13378404	NT_011516.5:12232:G:C	NC_000022.11:15915723:C:G	(self)
ss159678183	NT_028395.3:12232:G:C	NC_000022.11:15915723:C: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 rs9617507

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

rs9617507