Name: rs17117326
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.

rs17117326

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:72550418 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.069988 (18525/264690, TOPMED)
C=0.067416 (9448/140144, GnomAD)
C=0.057105 (7333/128412, GnomAD_exome) (+ 21 more)
C=0.13469 (3806/28258, 14KJPN)
C=0.05609 (1458/25996, ALFA)
C=0.13586 (2277/16760, 8.3KJPN)
C=0.04965 (535/10776, ExAC)
C=0.0871 (558/6404, 1000G_30x)
C=0.0879 (440/5008, 1000G)
C=0.0435 (195/4480, Estonian)
C=0.0298 (115/3854, ALSPAC)
C=0.0334 (124/3708, TWINSUK)
C=0.1182 (345/2920, KOREAN)
C=0.0904 (171/1892, HapMap)
C=0.1234 (226/1832, Korea1K)
C=0.035 (35/998, GoNL)
C=0.073 (46/626, Chileans)
C=0.070 (42/600, NorthernSweden)
C=0.074 (16/216, Qatari)
C=0.079 (17/216, Vietnamese)
T=0.436 (48/110, SGDP_PRJ)
C=0.03 (1/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS6 : 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	25996	T=0.94391	C=0.05609
European	Sub	17396	T=0.96378	C=0.03622
African	Sub	3648	T=0.8676	C=0.1324
African Others	Sub	126	T=0.865	C=0.135
African American	Sub	3522	T=0.8677	C=0.1323
Asian	Sub	164	T=0.860	C=0.140
East Asian	Sub	104	T=0.865	C=0.135
Other Asian	Sub	60	T=0.85	C=0.15
Latin American 1	Sub	300	T=0.947	C=0.053
Latin American 2	Sub	2774	T=0.9308	C=0.0692
South Asian	Sub	110	T=0.918	C=0.082
Other	Sub	1604	T=0.9345	C=0.0655

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	T=0.930012	C=0.069988
gnomAD - Genomes	Global	Study-wide	140144	T=0.932584	C=0.067416
gnomAD - Genomes	European	Sub	75910	T=0.96404	C=0.03596
gnomAD - Genomes	African	Sub	41970	T=0.87284	C=0.12716
gnomAD - Genomes	American	Sub	13660	T=0.94590	C=0.05410
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9651	C=0.0349
gnomAD - Genomes	East Asian	Sub	3132	T=0.8812	C=0.1188
gnomAD - Genomes	Other	Sub	2152	T=0.9284	C=0.0716
gnomAD - Exomes	Global	Study-wide	128412	T=0.942895	C=0.057105
gnomAD - Exomes	European	Sub	53046	T=0.96407	C=0.03593
gnomAD - Exomes	Asian	Sub	32818	T=0.92641	C=0.07359
gnomAD - Exomes	American	Sub	24356	T=0.92909	C=0.07091
gnomAD - Exomes	Ashkenazi Jewish	Sub	8094	T=0.9695	C=0.0305
gnomAD - Exomes	African	Sub	6094	T=0.8610	C=0.1390
gnomAD - Exomes	Other	Sub	4004	T=0.9523	C=0.0477
14KJPN	JAPANESE	Study-wide	28258	T=0.86531	C=0.13469
Allele Frequency Aggregator	Total	Global	25996	T=0.94391	C=0.05609
Allele Frequency Aggregator	European	Sub	17396	T=0.96378	C=0.03622
Allele Frequency Aggregator	African	Sub	3648	T=0.8676	C=0.1324
Allele Frequency Aggregator	Latin American 2	Sub	2774	T=0.9308	C=0.0692
Allele Frequency Aggregator	Other	Sub	1604	T=0.9345	C=0.0655
Allele Frequency Aggregator	Latin American 1	Sub	300	T=0.947	C=0.053
Allele Frequency Aggregator	Asian	Sub	164	T=0.860	C=0.140
Allele Frequency Aggregator	South Asian	Sub	110	T=0.918	C=0.082
8.3KJPN	JAPANESE	Study-wide	16760	T=0.86414	C=0.13586
ExAC	Global	Study-wide	10776	T=0.95035	C=0.04965
ExAC	Asian	Sub	7640	T=0.9449	C=0.0551
ExAC	Europe	Sub	2730	T=0.9700	C=0.0300
ExAC	African	Sub	196	T=0.888	C=0.112
ExAC	Other	Sub	118	T=0.932	C=0.068
ExAC	American	Sub	92	T=0.98	C=0.02
1000Genomes_30x	Global	Study-wide	6404	T=0.9129	C=0.0871
1000Genomes_30x	African	Sub	1786	T=0.8494	C=0.1506
1000Genomes_30x	Europe	Sub	1266	T=0.9716	C=0.0284
1000Genomes_30x	South Asian	Sub	1202	T=0.9260	C=0.0740
1000Genomes_30x	East Asian	Sub	1170	T=0.8966	C=0.1034
1000Genomes_30x	American	Sub	980	T=0.956	C=0.044
1000Genomes	Global	Study-wide	5008	T=0.9121	C=0.0879
1000Genomes	African	Sub	1322	T=0.8510	C=0.1490
1000Genomes	East Asian	Sub	1008	T=0.8958	C=0.1042
1000Genomes	Europe	Sub	1006	T=0.9682	C=0.0318
1000Genomes	South Asian	Sub	978	T=0.923	C=0.077
1000Genomes	American	Sub	694	T=0.955	C=0.045
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9565	C=0.0435
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9702	C=0.0298
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9666	C=0.0334
KOREAN population from KRGDB	KOREAN	Study-wide	2920	T=0.8818	C=0.1182
HapMap	Global	Study-wide	1892	T=0.9096	C=0.0904
HapMap	American	Sub	770	T=0.938	C=0.062
HapMap	African	Sub	692	T=0.858	C=0.142
HapMap	Asian	Sub	254	T=0.909	C=0.091
HapMap	Europe	Sub	176	T=0.989	C=0.011
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8766	C=0.1234
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.965	C=0.035
Chileans	Chilean	Study-wide	626	T=0.927	C=0.073
Northern Sweden	ACPOP	Study-wide	600	T=0.930	C=0.070
Qatari	Global	Study-wide	216	T=0.926	C=0.074
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.921	C=0.079
SGDP_PRJ	Global	Study-wide	110	T=0.436	C=0.564
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	4	T=0.5	C=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 14	NC_000014.9:g.72550418T>C
GRCh37.p13 chr 14	NC_000014.8:g.73017126T>C
RGS6 RefSeqGene	NG_029236.1:g.623310T>C

Gene: RGS6, regulator of G protein signaling 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS6 transcript variant 1	NM_001204416.3:c.1422+103… NM_001204416.3:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant 3	NM_001204417.3:c.1422+103… NM_001204417.3:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant 4	NM_001204418.3:c.1369-122… NM_001204418.3:c.1369-12297T>C	N/A	Intron Variant
RGS6 transcript variant 5	NM_001204419.3:c.1311+103… NM_001204419.3:c.1311+10324T>C	N/A	Intron Variant
RGS6 transcript variant 6	NM_001204420.3:c.1258-119… NM_001204420.3:c.1258-11999T>C	N/A	Intron Variant
RGS6 transcript variant 7	NM_001204421.3:c.1311+103… NM_001204421.3:c.1311+10324T>C	N/A	Intron Variant
RGS6 transcript variant 8	NM_001204422.3:c.1258-122… NM_001204422.3:c.1258-12297T>C	N/A	Intron Variant
RGS6 transcript variant 9	NM_001204423.2:c.1264-119… NM_001204423.2:c.1264-11999T>C	N/A	Intron Variant
RGS6 transcript variant 10	NM_001204424.2:c.1422+103… NM_001204424.2:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant 12	NM_001370270.1:c.1423-287… NM_001370270.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 13	NM_001370271.1:c.1423-287… NM_001370271.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 14	NM_001370272.1:c.1423-287… NM_001370272.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 15	NM_001370273.1:c.1423-287… NM_001370273.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 16	NM_001370274.1:c.1423-287… NM_001370274.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 17	NM_001370275.1:c.1423-287… NM_001370275.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 18	NM_001370276.1:c.1423-287… NM_001370276.1:c.1423-2872T>C	N/A	Intron Variant
RGS6 transcript variant 19	NM_001370277.1:c.1784+305… NM_001370277.1:c.1784+3051T>C	N/A	Intron Variant
RGS6 transcript variant 20	NM_001370278.1:c.1573+879… NM_001370278.1:c.1573+8798T>C	N/A	Intron Variant
RGS6 transcript variant 21	NM_001370279.1:c.1414-287… NM_001370279.1:c.1414-2872T>C	N/A	Intron Variant
RGS6 transcript variant 22	NM_001370280.1:c.1447+879… NM_001370280.1:c.1447+8798T>C	N/A	Intron Variant
RGS6 transcript variant 23	NM_001370281.1:c.1573+879… NM_001370281.1:c.1573+8798T>C	N/A	Intron Variant
RGS6 transcript variant 24	NM_001370282.1:c.14+8798… NM_001370282.1:c.14+8798T>C	N/A	Intron Variant
RGS6 transcript variant 25	NM_001370283.1:c.1312-287… NM_001370283.1:c.1312-2872T>C	N/A	Intron Variant
RGS6 transcript variant 26	NM_001370284.1:c.1422+103… NM_001370284.1:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant 27	NM_001370286.1:c.1213-287… NM_001370286.1:c.1213-2872T>C	N/A	Intron Variant
RGS6 transcript variant 28	NM_001370287.1:c.1369-119… NM_001370287.1:c.1369-11999T>C	N/A	Intron Variant
RGS6 transcript variant 29	NM_001370288.1:c.1369-119… NM_001370288.1:c.1369-11999T>C	N/A	Intron Variant
RGS6 transcript variant 30	NM_001370289.1:c.1369-119… NM_001370289.1:c.1369-11999T>C	N/A	Intron Variant
RGS6 transcript variant 31	NM_001370290.1:c.20+1032… NM_001370290.1:c.20+10324T>C	N/A	Intron Variant
RGS6 transcript variant 32	NM_001370291.1:c.20+1032… NM_001370291.1:c.20+10324T>C	N/A	Intron Variant
RGS6 transcript variant 33	NM_001370292.1:c.1258-119… NM_001370292.1:c.1258-11999T>C	N/A	Intron Variant
RGS6 transcript variant 34	NM_001370293.1:c.1258-119… NM_001370293.1:c.1258-11999T>C	N/A	Intron Variant
RGS6 transcript variant 35	NM_001370294.1:c.1132-119… NM_001370294.1:c.1132-11999T>C	N/A	Intron Variant
RGS6 transcript variant 2	NM_004296.7:c.1369-11999T… NM_004296.7:c.1369-11999T>C	N/A	Intron Variant
RGS6 transcript variant 11	NR_135235.2:n.	N/A	Intron Variant
RGS6 transcript variant X8	XM_011537397.2:c.1156+879… XM_011537397.2:c.1156+8798T>C	N/A	Intron Variant
RGS6 transcript variant X4	XM_017021820.3:c.1462+879… XM_017021820.3:c.1462+8798T>C	N/A	Intron Variant
RGS6 transcript variant X9	XM_017021822.3:c.1422+103… XM_017021822.3:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant X11	XM_017021825.3:c.1422+103… XM_017021825.3:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant X13	XM_017021827.3:c.1422+103… XM_017021827.3:c.1422+10324T>C	N/A	Intron Variant
RGS6 transcript variant X1	XM_024449759.2:c.1573+879… XM_024449759.2:c.1573+8798T>C	N/A	Intron Variant
RGS6 transcript variant X3	XM_024449760.2:c.1573+879… XM_024449760.2:c.1573+8798T>C	N/A	Intron Variant
RGS6 transcript variant X2	XM_024449761.2:c.1573+879… XM_024449761.2:c.1573+8798T>C	N/A	Intron Variant
RGS6 transcript variant X6	XM_024449763.2:c.1366+879… XM_024449763.2:c.1366+8798T>C	N/A	Intron Variant
RGS6 transcript variant X7	XM_024449764.2:c.1366+879… XM_024449764.2:c.1366+8798T>C	N/A	Intron Variant
RGS6 transcript variant X19	XM_024449776.2:c.1311+103… XM_024449776.2:c.1311+10324T>C	N/A	Intron Variant
RGS6 transcript variant X5	XM_047431985.1:c.1393+879… XM_047431985.1:c.1393+8798T>C	N/A	Intron Variant
RGS6 transcript variant X14	XM_047431988.1:c.931+8798… XM_047431988.1:c.931+8798T>C	N/A	Intron Variant
RGS6 transcript variant X12	XM_017021826.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X15	XM_017021828.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X16	XM_017021830.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X17	XM_017021831.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X18	XM_017021832.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X21	XM_017021833.3:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X10	XM_047431987.1:c.	N/A	Genic Downstream Transcript Variant
RGS6 transcript variant X20	XM_047431990.1:c.	N/A	Genic Downstream Transcript 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	T=	C
GRCh38.p14 chr 14	NC_000014.9:g.72550418=	NC_000014.9:g.72550418T>C
GRCh37.p13 chr 14	NC_000014.8:g.73017126=	NC_000014.8:g.73017126T>C
RGS6 RefSeqGene	NG_029236.1:g.623310=	NG_029236.1:g.623310T>C
RGS6 transcript variant 1	NM_001204416.1:c.1422+10324=	NM_001204416.1:c.1422+10324T>C
RGS6 transcript variant 1	NM_001204416.3:c.1422+10324=	NM_001204416.3:c.1422+10324T>C
RGS6 transcript variant 3	NM_001204417.1:c.1422+10324=	NM_001204417.1:c.1422+10324T>C
RGS6 transcript variant 3	NM_001204417.3:c.1422+10324=	NM_001204417.3:c.1422+10324T>C
RGS6 transcript variant 4	NM_001204418.1:c.1369-12297=	NM_001204418.1:c.1369-12297T>C
RGS6 transcript variant 4	NM_001204418.3:c.1369-12297=	NM_001204418.3:c.1369-12297T>C
RGS6 transcript variant 5	NM_001204419.1:c.1311+10324=	NM_001204419.1:c.1311+10324T>C
RGS6 transcript variant 5	NM_001204419.3:c.1311+10324=	NM_001204419.3:c.1311+10324T>C
RGS6 transcript variant 6	NM_001204420.1:c.1258-11999=	NM_001204420.1:c.1258-11999T>C
RGS6 transcript variant 6	NM_001204420.3:c.1258-11999=	NM_001204420.3:c.1258-11999T>C
RGS6 transcript variant 7	NM_001204421.1:c.1311+10324=	NM_001204421.1:c.1311+10324T>C
RGS6 transcript variant 7	NM_001204421.3:c.1311+10324=	NM_001204421.3:c.1311+10324T>C
RGS6 transcript variant 8	NM_001204422.1:c.1258-12297=	NM_001204422.1:c.1258-12297T>C
RGS6 transcript variant 8	NM_001204422.3:c.1258-12297=	NM_001204422.3:c.1258-12297T>C
RGS6 transcript variant 9	NM_001204423.1:c.1264-11999=	NM_001204423.1:c.1264-11999T>C
RGS6 transcript variant 9	NM_001204423.2:c.1264-11999=	NM_001204423.2:c.1264-11999T>C
RGS6 transcript variant 10	NM_001204424.1:c.1422+10324=	NM_001204424.1:c.1422+10324T>C
RGS6 transcript variant 10	NM_001204424.2:c.1422+10324=	NM_001204424.2:c.1422+10324T>C
RGS6 transcript variant 12	NM_001370270.1:c.1423-2872=	NM_001370270.1:c.1423-2872T>C
RGS6 transcript variant 13	NM_001370271.1:c.1423-2872=	NM_001370271.1:c.1423-2872T>C
RGS6 transcript variant 14	NM_001370272.1:c.1423-2872=	NM_001370272.1:c.1423-2872T>C
RGS6 transcript variant 15	NM_001370273.1:c.1423-2872=	NM_001370273.1:c.1423-2872T>C
RGS6 transcript variant 16	NM_001370274.1:c.1423-2872=	NM_001370274.1:c.1423-2872T>C
RGS6 transcript variant 17	NM_001370275.1:c.1423-2872=	NM_001370275.1:c.1423-2872T>C
RGS6 transcript variant 18	NM_001370276.1:c.1423-2872=	NM_001370276.1:c.1423-2872T>C
RGS6 transcript variant 19	NM_001370277.1:c.1784+3051=	NM_001370277.1:c.1784+3051T>C
RGS6 transcript variant 20	NM_001370278.1:c.1573+8798=	NM_001370278.1:c.1573+8798T>C
RGS6 transcript variant 21	NM_001370279.1:c.1414-2872=	NM_001370279.1:c.1414-2872T>C
RGS6 transcript variant 22	NM_001370280.1:c.1447+8798=	NM_001370280.1:c.1447+8798T>C
RGS6 transcript variant 23	NM_001370281.1:c.1573+8798=	NM_001370281.1:c.1573+8798T>C
RGS6 transcript variant 24	NM_001370282.1:c.*14+8798=	NM_001370282.1:c.*14+8798T>C
RGS6 transcript variant 25	NM_001370283.1:c.1312-2872=	NM_001370283.1:c.1312-2872T>C
RGS6 transcript variant 26	NM_001370284.1:c.1422+10324=	NM_001370284.1:c.1422+10324T>C
RGS6 transcript variant 27	NM_001370286.1:c.1213-2872=	NM_001370286.1:c.1213-2872T>C
RGS6 transcript variant 28	NM_001370287.1:c.1369-11999=	NM_001370287.1:c.1369-11999T>C
RGS6 transcript variant 29	NM_001370288.1:c.1369-11999=	NM_001370288.1:c.1369-11999T>C
RGS6 transcript variant 30	NM_001370289.1:c.1369-11999=	NM_001370289.1:c.1369-11999T>C
RGS6 transcript variant 31	NM_001370290.1:c.*20+10324=	NM_001370290.1:c.*20+10324T>C
RGS6 transcript variant 32	NM_001370291.1:c.*20+10324=	NM_001370291.1:c.*20+10324T>C
RGS6 transcript variant 33	NM_001370292.1:c.1258-11999=	NM_001370292.1:c.1258-11999T>C
RGS6 transcript variant 34	NM_001370293.1:c.1258-11999=	NM_001370293.1:c.1258-11999T>C
RGS6 transcript variant 35	NM_001370294.1:c.1132-11999=	NM_001370294.1:c.1132-11999T>C
RGS6 transcript variant 2	NM_004296.5:c.1369-11999=	NM_004296.5:c.1369-11999T>C
RGS6 transcript variant 2	NM_004296.7:c.1369-11999=	NM_004296.7:c.1369-11999T>C
RGS6 transcript variant X1	XM_005268231.1:c.1785-37=	XM_005268231.1:c.1785-37T>C
RGS6 transcript variant X2	XM_005268232.1:c.1578-37=	XM_005268232.1:c.1578-37T>C
RGS6 transcript variant X3	XM_005268233.1:c.*19+3051=	XM_005268233.1:c.*19+3051T>C
RGS6 transcript variant X4	XM_005268234.1:c.1422+10324=	XM_005268234.1:c.1422+10324T>C
RGS6 transcript variant X21	XM_005268236.1:c.1369-11999=	XM_005268236.1:c.1369-11999T>C
RGS6 transcript variant X8	XM_011537397.2:c.1156+8798=	XM_011537397.2:c.1156+8798T>C
RGS6 transcript variant X4	XM_017021820.3:c.1462+8798=	XM_017021820.3:c.1462+8798T>C
RGS6 transcript variant X9	XM_017021822.3:c.1422+10324=	XM_017021822.3:c.1422+10324T>C
RGS6 transcript variant X11	XM_017021825.3:c.1422+10324=	XM_017021825.3:c.1422+10324T>C
RGS6 transcript variant X13	XM_017021827.3:c.1422+10324=	XM_017021827.3:c.1422+10324T>C
RGS6 transcript variant X1	XM_024449759.2:c.1573+8798=	XM_024449759.2:c.1573+8798T>C
RGS6 transcript variant X3	XM_024449760.2:c.1573+8798=	XM_024449760.2:c.1573+8798T>C
RGS6 transcript variant X2	XM_024449761.2:c.1573+8798=	XM_024449761.2:c.1573+8798T>C
RGS6 transcript variant X6	XM_024449763.2:c.1366+8798=	XM_024449763.2:c.1366+8798T>C
RGS6 transcript variant X7	XM_024449764.2:c.1366+8798=	XM_024449764.2:c.1366+8798T>C
RGS6 transcript variant X19	XM_024449776.2:c.1311+10324=	XM_024449776.2:c.1311+10324T>C
RGS6 transcript variant X5	XM_047431985.1:c.1393+8798=	XM_047431985.1:c.1393+8798T>C
RGS6 transcript variant X14	XM_047431988.1:c.931+8798=	XM_047431988.1:c.931+8798T>C

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, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24133494	Sep 20, 2004 (123)
2	AFFY	ss66193025	Nov 30, 2006 (127)
3	AFFY	ss76271318	Dec 07, 2007 (129)
4	KRIBB_YJKIM	ss83198899	Dec 14, 2007 (130)
5	AFFY	ss173057620	Jul 04, 2010 (132)
6	1000GENOMES	ss226644149	Jul 14, 2010 (132)
7	1000GENOMES	ss236598516	Jul 15, 2010 (132)
8	1000GENOMES	ss243020736	Jul 15, 2010 (132)
9	GMI	ss282058832	May 04, 2012 (137)
10	ILLUMINA	ss533988784	Sep 08, 2015 (146)
11	TISHKOFF	ss564179737	Apr 25, 2013 (138)
12	SSMP	ss659869687	Apr 25, 2013 (138)
13	EVA-GONL	ss991300674	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1079769135	Aug 21, 2014 (142)
15	1000GENOMES	ss1351584118	Aug 21, 2014 (142)
16	EVA_GENOME_DK	ss1577344085	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1632049417	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1675043450	Apr 01, 2015 (144)
19	EVA_EXAC	ss1691544442	Apr 01, 2015 (144)
20	EVA_DECODE	ss1695304650	Apr 01, 2015 (144)
21	EVA_SVP	ss1713455644	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1807982994	Sep 08, 2015 (146)
23	WEILL_CORNELL_DGM	ss1934671201	Feb 12, 2016 (147)
24	JJLAB	ss2028117679	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2156492741	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2203186335	Dec 20, 2016 (150)
27	GRF	ss2700924801	Nov 08, 2017 (151)
28	GNOMAD	ss2740812804	Nov 08, 2017 (151)
29	GNOMAD	ss2749166179	Nov 08, 2017 (151)
30	GNOMAD	ss2929348252	Nov 08, 2017 (151)
31	AFFY	ss2985025529	Nov 08, 2017 (151)
32	SWEGEN	ss3012437971	Nov 08, 2017 (151)
33	CSHL	ss3350874199	Nov 08, 2017 (151)
34	ILLUMINA	ss3627252827	Oct 12, 2018 (152)
35	OMUKHERJEE_ADBS	ss3646462214	Oct 12, 2018 (152)
36	EGCUT_WGS	ss3679695220	Jul 13, 2019 (153)
37	EVA_DECODE	ss3696965295	Jul 13, 2019 (153)
38	ACPOP	ss3740510639	Jul 13, 2019 (153)
39	EVA	ss3752501389	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3817828599	Jul 13, 2019 (153)
41	SGDP_PRJ	ss3881809533	Apr 27, 2020 (154)
42	KRGDB	ss3930858282	Apr 27, 2020 (154)
43	KOGIC	ss3975217473	Apr 27, 2020 (154)
44	FSA-LAB	ss3984059177	Apr 27, 2021 (155)
45	EVA	ss3986623973	Apr 27, 2021 (155)
46	TOPMED	ss4975691505	Apr 27, 2021 (155)
47	TOMMO_GENOMICS	ss5213886154	Apr 27, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5296730870	Oct 17, 2022 (156)
49	EVA	ss5416183782	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5490725008	Oct 17, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5597267114	Oct 17, 2022 (156)
52	SANFORD_IMAGENETICS	ss5656508417	Oct 17, 2022 (156)
53	TOMMO_GENOMICS	ss5766877923	Oct 17, 2022 (156)
54	YY_MCH	ss5814876934	Oct 17, 2022 (156)
55	EVA	ss5841310221	Oct 17, 2022 (156)
56	EVA	ss5848387381	Oct 17, 2022 (156)
57	EVA	ss5851095743	Oct 17, 2022 (156)
58	EVA	ss5901925933	Oct 17, 2022 (156)
59	EVA	ss5947955302	Oct 17, 2022 (156)
60	1000Genomes	NC_000014.8 - 73017126	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000014.9 - 72550418	Oct 17, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 73017126	Oct 12, 2018 (152)
63	Chileans	NC_000014.8 - 73017126	Apr 27, 2020 (154)
64	Genetic variation in the Estonian population	NC_000014.8 - 73017126	Oct 12, 2018 (152)
65	ExAC	NC_000014.8 - 73017126	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000014.8 - 73017126	Apr 27, 2020 (154)
67	gnomAD - Genomes	NC_000014.9 - 72550418	Apr 27, 2021 (155)
68	gnomAD - Exomes	NC_000014.8 - 73017126	Jul 13, 2019 (153)
69	Genome of the Netherlands Release 5	NC_000014.8 - 73017126	Apr 27, 2020 (154)
70	HapMap	NC_000014.9 - 72550418	Apr 27, 2020 (154)
71	KOREAN population from KRGDB	NC_000014.8 - 73017126	Apr 27, 2020 (154)
72	Korean Genome Project	NC_000014.9 - 72550418	Apr 27, 2020 (154)
73	Northern Sweden	NC_000014.8 - 73017126	Jul 13, 2019 (153)
74	Qatari	NC_000014.8 - 73017126	Apr 27, 2020 (154)
75	SGDP_PRJ	NC_000014.8 - 73017126	Apr 27, 2020 (154)
76	Siberian	NC_000014.8 - 73017126	Apr 27, 2020 (154)
77	8.3KJPN	NC_000014.8 - 73017126	Apr 27, 2021 (155)
78	14KJPN	NC_000014.9 - 72550418	Oct 17, 2022 (156)
79	TopMed	NC_000014.9 - 72550418	Apr 27, 2021 (155)
80	UK 10K study - Twins	NC_000014.8 - 73017126	Oct 12, 2018 (152)
81	A Vietnamese Genetic Variation Database	NC_000014.8 - 73017126	Jul 13, 2019 (153)
82	ALFA	NC_000014.9 - 72550418	Apr 27, 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)
rs57307613	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66193025, ss76271318, ss173057620, ss282058832, ss1695304650, ss1713455644	NC_000014.7:72086878:T:C	NC_000014.9:72550417:T:C	(self)
64586764, 35889464, 141614, 25433468, 1894659, 3663696, 10067783, 16027772, 38035676, 13795504, 16713131, 33826513, 9009095, 71855461, 35889464, 7983204, ss226644149, ss236598516, ss243020736, ss533988784, ss564179737, ss659869687, ss991300674, ss1079769135, ss1351584118, ss1577344085, ss1632049417, ss1675043450, ss1691544442, ss1807982994, ss1934671201, ss2028117679, ss2156492741, ss2700924801, ss2740812804, ss2749166179, ss2929348252, ss2985025529, ss3012437971, ss3350874199, ss3627252827, ss3646462214, ss3679695220, ss3740510639, ss3752501389, ss3881809533, ss3930858282, ss3984059177, ss3986623973, ss5213886154, ss5416183782, ss5656508417, ss5841310221, ss5848387381, ss5947955302	NC_000014.8:73017125:T:C	NC_000014.9:72550417:T:C	(self)
84793049, 455381156, 1173694, 31595474, 100715027, 191237164, 8050540803, ss2203186335, ss3696965295, ss3817828599, ss3975217473, ss4975691505, ss5296730870, ss5490725008, ss5597267114, ss5766877923, ss5814876934, ss5851095743, ss5901925933	NC_000014.9:72550417:T:C	NC_000014.9:72550417:T:C	(self)
ss24133494, ss83198899	NT_026437.12:54017125:T:C	NC_000014.9:72550417:T:C	(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 rs17117326

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
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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

rs17117326