Name: rs17179483
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.

rs17179483

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:72086549 (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: A>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.047626 (12606/264690, TOPMED)
G=0.053747 (7735/143916, ALFA)
G=0.048108 (6743/140164, GnomAD) (+ 22 more)
G=0.02955 (835/28258, 14KJPN)
G=0.02983 (500/16760, 8.3KJPN)
G=0.0418 (268/6404, 1000G_30x)
G=0.0429 (215/5008, 1000G)
G=0.0600 (269/4480, Estonian)
G=0.0568 (219/3854, ALSPAC)
G=0.0618 (229/3708, TWINSUK)
G=0.0294 (86/2930, KOREAN)
G=0.0384 (80/2084, HGDP_Stanford)
G=0.0306 (56/1832, Korea1K)
G=0.0442 (71/1606, HapMap)
G=0.0449 (51/1136, Daghestan)
G=0.067 (67/998, GoNL)
G=0.047 (28/600, NorthernSweden)
G=0.014 (3/216, Qatari)
G=0.037 (8/216, Vietnamese)
G=0.06 (4/64, Ancient Sardinia)
A=0.50 (23/46, SGDP_PRJ)
G=0.50 (23/46, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, 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	143916	A=0.946253	G=0.053747
European	Sub	115700	A=0.942385	G=0.057615
African	Sub	9560	A=0.9656	G=0.0344
African Others	Sub	342	A=0.953	G=0.047
African American	Sub	9218	A=0.9660	G=0.0340
Asian	Sub	658	A=0.953	G=0.047
East Asian	Sub	530	A=0.957	G=0.043
Other Asian	Sub	128	A=0.938	G=0.062
Latin American 1	Sub	772	A=0.939	G=0.061
Latin American 2	Sub	6382	A=0.9688	G=0.0312
South Asian	Sub	5036	A=0.9623	G=0.0377
Other	Sub	5808	A=0.9530	G=0.0470

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	A=0.952374	G=0.047626
Allele Frequency Aggregator	Total	Global	143916	A=0.946253	G=0.053747
Allele Frequency Aggregator	European	Sub	115700	A=0.942385	G=0.057615
Allele Frequency Aggregator	African	Sub	9560	A=0.9656	G=0.0344
Allele Frequency Aggregator	Latin American 2	Sub	6382	A=0.9688	G=0.0312
Allele Frequency Aggregator	Other	Sub	5808	A=0.9530	G=0.0470
Allele Frequency Aggregator	South Asian	Sub	5036	A=0.9623	G=0.0377
Allele Frequency Aggregator	Latin American 1	Sub	772	A=0.939	G=0.061
Allele Frequency Aggregator	Asian	Sub	658	A=0.953	G=0.047
gnomAD - Genomes	Global	Study-wide	140164	A=0.951892	G=0.048108
gnomAD - Genomes	European	Sub	75920	A=0.94328	G=0.05672
gnomAD - Genomes	African	Sub	42006	A=0.96753	G=0.03247
gnomAD - Genomes	American	Sub	13636	A=0.94852	G=0.05148
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.9623	G=0.0377
gnomAD - Genomes	East Asian	Sub	3132	A=0.9566	G=0.0434
gnomAD - Genomes	Other	Sub	2150	A=0.9488	G=0.0512
14KJPN	JAPANESE	Study-wide	28258	A=0.97045	G=0.02955
8.3KJPN	JAPANESE	Study-wide	16760	A=0.97017	G=0.02983
1000Genomes_30x	Global	Study-wide	6404	A=0.9582	G=0.0418
1000Genomes_30x	African	Sub	1786	A=0.9630	G=0.0370
1000Genomes_30x	Europe	Sub	1266	A=0.9447	G=0.0553
1000Genomes_30x	South Asian	Sub	1202	A=0.9667	G=0.0333
1000Genomes_30x	East Asian	Sub	1170	A=0.9564	G=0.0436
1000Genomes_30x	American	Sub	980	A=0.958	G=0.042
1000Genomes	Global	Study-wide	5008	A=0.9571	G=0.0429
1000Genomes	African	Sub	1322	A=0.9637	G=0.0363
1000Genomes	East Asian	Sub	1008	A=0.9544	G=0.0456
1000Genomes	Europe	Sub	1006	A=0.9414	G=0.0586
1000Genomes	South Asian	Sub	978	A=0.966	G=0.034
1000Genomes	American	Sub	694	A=0.958	G=0.042
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9400	G=0.0600
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9432	G=0.0568
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9382	G=0.0618
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9703	C=0.0003, G=0.0294
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.9616	G=0.0384
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.974	G=0.026
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.961	G=0.039
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.946	G=0.054
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.922	G=0.078
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.996	G=0.004
HGDP-CEPH-db Supplement 1	America	Sub	216	A=1.000	G=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.90	G=0.10
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9694	G=0.0306
HapMap	Global	Study-wide	1606	A=0.9558	G=0.0442
HapMap	American	Sub	770	A=0.958	G=0.042
HapMap	African	Sub	406	A=0.970	G=0.030
HapMap	Asian	Sub	254	A=0.933	G=0.067
HapMap	Europe	Sub	176	A=0.943	G=0.057
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.9551	G=0.0449
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.957	G=0.043
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.958	G=0.042
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.975	G=0.025
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.954	G=0.046
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.95	G=0.05
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.86	G=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.933	G=0.067
Northern Sweden	ACPOP	Study-wide	600	A=0.953	G=0.047
Qatari	Global	Study-wide	216	A=0.986	G=0.014
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.963	G=0.037
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	A=0.94	G=0.06
SGDP_PRJ	Global	Study-wide	46	A=0.50	G=0.50
The Danish reference pan genome	Danish	Study-wide	40	A=0.95	G=0.05
Siberian	Global	Study-wide	2	A=0.5	G=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.72086549A>C
GRCh38.p14 chr 14	NC_000014.9:g.72086549A>G
GRCh37.p13 chr 14	NC_000014.8:g.72553266A>C
GRCh37.p13 chr 14	NC_000014.8:g.72553266A>G
RGS6 RefSeqGene	NG_029236.1:g.159450A>C
RGS6 RefSeqGene	NG_029236.1:g.159450A>G

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.84+12167… NM_001204416.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 3	NM_001204417.3:c.84+12167… NM_001204417.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 4	NM_001204418.3:c.84+12167… NM_001204418.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 5	NM_001204419.3:c.84+12167… NM_001204419.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 6	NM_001204420.3:c.84+12167… NM_001204420.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 7	NM_001204421.3:c.84+12167… NM_001204421.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 8	NM_001204422.3:c.84+12167… NM_001204422.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 9	NM_001204423.2:c.-22+1543… NM_001204423.2:c.-22+154316A>C	N/A	Intron Variant
RGS6 transcript variant 10	NM_001204424.2:c.84+12167… NM_001204424.2:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 12	NM_001370270.1:c.84+12167… NM_001370270.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 13	NM_001370271.1:c.84+12167… NM_001370271.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 14	NM_001370272.1:c.84+12167… NM_001370272.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 15	NM_001370273.1:c.84+12167… NM_001370273.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 16	NM_001370274.1:c.84+12167… NM_001370274.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 17	NM_001370275.1:c.84+12167… NM_001370275.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 18	NM_001370276.1:c.84+12167… NM_001370276.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 19	NM_001370277.1:c.84+12167… NM_001370277.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 20	NM_001370278.1:c.84+12167… NM_001370278.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 21	NM_001370279.1:c.84+12167… NM_001370279.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 22	NM_001370280.1:c.84+12167… NM_001370280.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 23	NM_001370281.1:c.84+12167… NM_001370281.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 24	NM_001370282.1:c.84+12167… NM_001370282.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 25	NM_001370283.1:c.84+12167… NM_001370283.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 26	NM_001370284.1:c.84+12167… NM_001370284.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 27	NM_001370286.1:c.84+12167… NM_001370286.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 28	NM_001370287.1:c.84+12167… NM_001370287.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 29	NM_001370288.1:c.84+12167… NM_001370288.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 30	NM_001370289.1:c.84+12167… NM_001370289.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 31	NM_001370290.1:c.84+12167… NM_001370290.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 32	NM_001370291.1:c.84+12167… NM_001370291.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 33	NM_001370292.1:c.84+12167… NM_001370292.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 34	NM_001370293.1:c.84+12167… NM_001370293.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 35	NM_001370294.1:c.84+12167… NM_001370294.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 2	NM_004296.7:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant 11	NR_135235.2:n.	N/A	Intron Variant
RGS6 transcript variant X4	XM_017021820.3:c.84+12167… XM_017021820.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X9	XM_017021822.3:c.84+12167… XM_017021822.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X11	XM_017021825.3:c.84+12167… XM_017021825.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X12	XM_017021826.3:c.84+12167… XM_017021826.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X13	XM_017021827.3:c.84+12167… XM_017021827.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X15	XM_017021828.3:c.84+12167… XM_017021828.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X16	XM_017021830.3:c.84+12167… XM_017021830.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X17	XM_017021831.3:c.84+12167… XM_017021831.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X18	XM_017021832.3:c.84+12167… XM_017021832.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X21	XM_017021833.3:c.84+12167… XM_017021833.3:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X1	XM_024449759.2:c.84+12167… XM_024449759.2:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X3	XM_024449760.2:c.84+12167… XM_024449760.2:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X2	XM_024449761.2:c.84+12167… XM_024449761.2:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X19	XM_024449776.2:c.84+12167… XM_024449776.2:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X10	XM_047431987.1:c.84+12167… XM_047431987.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X20	XM_047431990.1:c.84+12167… XM_047431990.1:c.84+121674A>C	N/A	Intron Variant
RGS6 transcript variant X8	XM_011537397.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X6	XM_024449763.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X7	XM_024449764.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X5	XM_047431985.1:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X14	XM_047431988.1:c.	N/A	Genic Upstream 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	A=	C	G
GRCh38.p14 chr 14	NC_000014.9:g.72086549=	NC_000014.9:g.72086549A>C	NC_000014.9:g.72086549A>G
GRCh37.p13 chr 14	NC_000014.8:g.72553266=	NC_000014.8:g.72553266A>C	NC_000014.8:g.72553266A>G
RGS6 RefSeqGene	NG_029236.1:g.159450=	NG_029236.1:g.159450A>C	NG_029236.1:g.159450A>G
RGS6 transcript variant 1	NM_001204416.1:c.84+121674=	NM_001204416.1:c.84+121674A>C	NM_001204416.1:c.84+121674A>G
RGS6 transcript variant 1	NM_001204416.3:c.84+121674=	NM_001204416.3:c.84+121674A>C	NM_001204416.3:c.84+121674A>G
RGS6 transcript variant 3	NM_001204417.1:c.84+121674=	NM_001204417.1:c.84+121674A>C	NM_001204417.1:c.84+121674A>G
RGS6 transcript variant 3	NM_001204417.3:c.84+121674=	NM_001204417.3:c.84+121674A>C	NM_001204417.3:c.84+121674A>G
RGS6 transcript variant 4	NM_001204418.1:c.84+121674=	NM_001204418.1:c.84+121674A>C	NM_001204418.1:c.84+121674A>G
RGS6 transcript variant 4	NM_001204418.3:c.84+121674=	NM_001204418.3:c.84+121674A>C	NM_001204418.3:c.84+121674A>G
RGS6 transcript variant 5	NM_001204419.1:c.84+121674=	NM_001204419.1:c.84+121674A>C	NM_001204419.1:c.84+121674A>G
RGS6 transcript variant 5	NM_001204419.3:c.84+121674=	NM_001204419.3:c.84+121674A>C	NM_001204419.3:c.84+121674A>G
RGS6 transcript variant 6	NM_001204420.1:c.84+121674=	NM_001204420.1:c.84+121674A>C	NM_001204420.1:c.84+121674A>G
RGS6 transcript variant 6	NM_001204420.3:c.84+121674=	NM_001204420.3:c.84+121674A>C	NM_001204420.3:c.84+121674A>G
RGS6 transcript variant 7	NM_001204421.1:c.84+121674=	NM_001204421.1:c.84+121674A>C	NM_001204421.1:c.84+121674A>G
RGS6 transcript variant 7	NM_001204421.3:c.84+121674=	NM_001204421.3:c.84+121674A>C	NM_001204421.3:c.84+121674A>G
RGS6 transcript variant 8	NM_001204422.1:c.84+121674=	NM_001204422.1:c.84+121674A>C	NM_001204422.1:c.84+121674A>G
RGS6 transcript variant 8	NM_001204422.3:c.84+121674=	NM_001204422.3:c.84+121674A>C	NM_001204422.3:c.84+121674A>G
RGS6 transcript variant 9	NM_001204423.1:c.-22+154316=	NM_001204423.1:c.-22+154316A>C	NM_001204423.1:c.-22+154316A>G
RGS6 transcript variant 9	NM_001204423.2:c.-22+154316=	NM_001204423.2:c.-22+154316A>C	NM_001204423.2:c.-22+154316A>G
RGS6 transcript variant 10	NM_001204424.1:c.84+121674=	NM_001204424.1:c.84+121674A>C	NM_001204424.1:c.84+121674A>G
RGS6 transcript variant 10	NM_001204424.2:c.84+121674=	NM_001204424.2:c.84+121674A>C	NM_001204424.2:c.84+121674A>G
RGS6 transcript variant 12	NM_001370270.1:c.84+121674=	NM_001370270.1:c.84+121674A>C	NM_001370270.1:c.84+121674A>G
RGS6 transcript variant 13	NM_001370271.1:c.84+121674=	NM_001370271.1:c.84+121674A>C	NM_001370271.1:c.84+121674A>G
RGS6 transcript variant 14	NM_001370272.1:c.84+121674=	NM_001370272.1:c.84+121674A>C	NM_001370272.1:c.84+121674A>G
RGS6 transcript variant 15	NM_001370273.1:c.84+121674=	NM_001370273.1:c.84+121674A>C	NM_001370273.1:c.84+121674A>G
RGS6 transcript variant 16	NM_001370274.1:c.84+121674=	NM_001370274.1:c.84+121674A>C	NM_001370274.1:c.84+121674A>G
RGS6 transcript variant 17	NM_001370275.1:c.84+121674=	NM_001370275.1:c.84+121674A>C	NM_001370275.1:c.84+121674A>G
RGS6 transcript variant 18	NM_001370276.1:c.84+121674=	NM_001370276.1:c.84+121674A>C	NM_001370276.1:c.84+121674A>G
RGS6 transcript variant 19	NM_001370277.1:c.84+121674=	NM_001370277.1:c.84+121674A>C	NM_001370277.1:c.84+121674A>G
RGS6 transcript variant 20	NM_001370278.1:c.84+121674=	NM_001370278.1:c.84+121674A>C	NM_001370278.1:c.84+121674A>G
RGS6 transcript variant 21	NM_001370279.1:c.84+121674=	NM_001370279.1:c.84+121674A>C	NM_001370279.1:c.84+121674A>G
RGS6 transcript variant 22	NM_001370280.1:c.84+121674=	NM_001370280.1:c.84+121674A>C	NM_001370280.1:c.84+121674A>G
RGS6 transcript variant 23	NM_001370281.1:c.84+121674=	NM_001370281.1:c.84+121674A>C	NM_001370281.1:c.84+121674A>G
RGS6 transcript variant 24	NM_001370282.1:c.84+121674=	NM_001370282.1:c.84+121674A>C	NM_001370282.1:c.84+121674A>G
RGS6 transcript variant 25	NM_001370283.1:c.84+121674=	NM_001370283.1:c.84+121674A>C	NM_001370283.1:c.84+121674A>G
RGS6 transcript variant 26	NM_001370284.1:c.84+121674=	NM_001370284.1:c.84+121674A>C	NM_001370284.1:c.84+121674A>G
RGS6 transcript variant 27	NM_001370286.1:c.84+121674=	NM_001370286.1:c.84+121674A>C	NM_001370286.1:c.84+121674A>G
RGS6 transcript variant 28	NM_001370287.1:c.84+121674=	NM_001370287.1:c.84+121674A>C	NM_001370287.1:c.84+121674A>G
RGS6 transcript variant 29	NM_001370288.1:c.84+121674=	NM_001370288.1:c.84+121674A>C	NM_001370288.1:c.84+121674A>G
RGS6 transcript variant 30	NM_001370289.1:c.84+121674=	NM_001370289.1:c.84+121674A>C	NM_001370289.1:c.84+121674A>G
RGS6 transcript variant 31	NM_001370290.1:c.84+121674=	NM_001370290.1:c.84+121674A>C	NM_001370290.1:c.84+121674A>G
RGS6 transcript variant 32	NM_001370291.1:c.84+121674=	NM_001370291.1:c.84+121674A>C	NM_001370291.1:c.84+121674A>G
RGS6 transcript variant 33	NM_001370292.1:c.84+121674=	NM_001370292.1:c.84+121674A>C	NM_001370292.1:c.84+121674A>G
RGS6 transcript variant 34	NM_001370293.1:c.84+121674=	NM_001370293.1:c.84+121674A>C	NM_001370293.1:c.84+121674A>G
RGS6 transcript variant 35	NM_001370294.1:c.84+121674=	NM_001370294.1:c.84+121674A>C	NM_001370294.1:c.84+121674A>G
RGS6 transcript variant 2	NM_004296.5:c.84+121674=	NM_004296.5:c.84+121674A>C	NM_004296.5:c.84+121674A>G
RGS6 transcript variant 2	NM_004296.7:c.84+121674=	NM_004296.7:c.84+121674A>C	NM_004296.7:c.84+121674A>G
RGS6 transcript variant X1	XM_005268231.1:c.84+121674=	XM_005268231.1:c.84+121674A>C	XM_005268231.1:c.84+121674A>G
RGS6 transcript variant X3	XM_005268233.1:c.84+121674=	XM_005268233.1:c.84+121674A>C	XM_005268233.1:c.84+121674A>G
RGS6 transcript variant X4	XM_005268234.1:c.84+121674=	XM_005268234.1:c.84+121674A>C	XM_005268234.1:c.84+121674A>G
RGS6 transcript variant X5	XM_005268235.1:c.84+121674=	XM_005268235.1:c.84+121674A>C	XM_005268235.1:c.84+121674A>G
RGS6 transcript variant X21	XM_005268236.1:c.84+121674=	XM_005268236.1:c.84+121674A>C	XM_005268236.1:c.84+121674A>G
RGS6 transcript variant X4	XM_017021820.3:c.84+121674=	XM_017021820.3:c.84+121674A>C	XM_017021820.3:c.84+121674A>G
RGS6 transcript variant X9	XM_017021822.3:c.84+121674=	XM_017021822.3:c.84+121674A>C	XM_017021822.3:c.84+121674A>G
RGS6 transcript variant X11	XM_017021825.3:c.84+121674=	XM_017021825.3:c.84+121674A>C	XM_017021825.3:c.84+121674A>G
RGS6 transcript variant X12	XM_017021826.3:c.84+121674=	XM_017021826.3:c.84+121674A>C	XM_017021826.3:c.84+121674A>G
RGS6 transcript variant X13	XM_017021827.3:c.84+121674=	XM_017021827.3:c.84+121674A>C	XM_017021827.3:c.84+121674A>G
RGS6 transcript variant X15	XM_017021828.3:c.84+121674=	XM_017021828.3:c.84+121674A>C	XM_017021828.3:c.84+121674A>G
RGS6 transcript variant X16	XM_017021830.3:c.84+121674=	XM_017021830.3:c.84+121674A>C	XM_017021830.3:c.84+121674A>G
RGS6 transcript variant X17	XM_017021831.3:c.84+121674=	XM_017021831.3:c.84+121674A>C	XM_017021831.3:c.84+121674A>G
RGS6 transcript variant X18	XM_017021832.3:c.84+121674=	XM_017021832.3:c.84+121674A>C	XM_017021832.3:c.84+121674A>G
RGS6 transcript variant X21	XM_017021833.3:c.84+121674=	XM_017021833.3:c.84+121674A>C	XM_017021833.3:c.84+121674A>G
RGS6 transcript variant X1	XM_024449759.2:c.84+121674=	XM_024449759.2:c.84+121674A>C	XM_024449759.2:c.84+121674A>G
RGS6 transcript variant X3	XM_024449760.2:c.84+121674=	XM_024449760.2:c.84+121674A>C	XM_024449760.2:c.84+121674A>G
RGS6 transcript variant X2	XM_024449761.2:c.84+121674=	XM_024449761.2:c.84+121674A>C	XM_024449761.2:c.84+121674A>G
RGS6 transcript variant X19	XM_024449776.2:c.84+121674=	XM_024449776.2:c.84+121674A>C	XM_024449776.2:c.84+121674A>G
RGS6 transcript variant X10	XM_047431987.1:c.84+121674=	XM_047431987.1:c.84+121674A>C	XM_047431987.1:c.84+121674A>G
RGS6 transcript variant X20	XM_047431990.1:c.84+121674=	XM_047431990.1:c.84+121674A>C	XM_047431990.1:c.84+121674A>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#.

87 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24605672	Sep 20, 2004 (123)
2	ILLUMINA	ss67180628	Nov 30, 2006 (127)
3	ILLUMINA	ss67547957	Nov 30, 2006 (127)
4	ILLUMINA	ss68177156	Dec 12, 2006 (127)
5	PERLEGEN	ss69161574	May 17, 2007 (127)
6	ILLUMINA	ss70658663	May 25, 2008 (130)
7	ILLUMINA	ss71219562	May 17, 2007 (127)
8	ILLUMINA	ss75587844	Dec 07, 2007 (129)
9	KRIBB_YJKIM	ss85373825	Dec 15, 2007 (130)
10	BGI	ss103197466	Dec 01, 2009 (131)
11	1000GENOMES	ss108444521	Jan 23, 2009 (130)
12	ILLUMINA	ss153647698	Dec 01, 2009 (131)
13	ILLUMINA	ss159312491	Dec 01, 2009 (131)
14	ILLUMINA	ss160433751	Dec 01, 2009 (131)
15	ILLUMINA	ss172779755	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss206913395	Jul 04, 2010 (132)
17	1000GENOMES	ss226641855	Jul 14, 2010 (132)
18	1000GENOMES	ss236596885	Jul 15, 2010 (132)
19	1000GENOMES	ss243019317	Jul 15, 2010 (132)
20	GMI	ss282057224	May 04, 2012 (137)
21	ILLUMINA	ss480209693	May 04, 2012 (137)
22	ILLUMINA	ss480220119	May 04, 2012 (137)
23	ILLUMINA	ss480951272	Sep 08, 2015 (146)
24	ILLUMINA	ss484902836	May 04, 2012 (137)
25	ILLUMINA	ss536957115	Sep 08, 2015 (146)
26	TISHKOFF	ss564177163	Apr 25, 2013 (138)
27	SSMP	ss659867110	Apr 25, 2013 (138)
28	ILLUMINA	ss780672013	Sep 08, 2015 (146)
29	ILLUMINA	ss782897741	Aug 21, 2014 (142)
30	ILLUMINA	ss783861133	Sep 08, 2015 (146)
31	ILLUMINA	ss832152475	Apr 01, 2015 (144)
32	ILLUMINA	ss832824545	Aug 21, 2014 (142)
33	ILLUMINA	ss833415375	Aug 21, 2014 (142)
34	ILLUMINA	ss836168089	Sep 08, 2015 (146)
35	EVA-GONL	ss991296435	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1079766109	Aug 21, 2014 (142)
37	1000GENOMES	ss1351568674	Aug 21, 2014 (142)
38	HAMMER_LAB	ss1397684448	Sep 08, 2015 (146)
39	DDI	ss1427465602	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1577341826	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1632040935	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1675034968	Apr 01, 2015 (144)
43	EVA_DECODE	ss1695300389	Apr 01, 2015 (144)
44	EVA_SVP	ss1713455230	Apr 01, 2015 (144)
45	WEILL_CORNELL_DGM	ss1934667052	Feb 12, 2016 (147)
46	JJLAB	ss2028115581	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2156490628	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2203155336	Dec 20, 2016 (150)
49	GRF	ss2700922397	Nov 08, 2017 (151)
50	GNOMAD	ss2929307670	Nov 08, 2017 (151)
51	SWEGEN	ss3012432278	Nov 08, 2017 (151)
52	ILLUMINA	ss3627251869	Oct 12, 2018 (152)
53	ILLUMINA	ss3631166162	Oct 12, 2018 (152)
54	ILLUMINA	ss3633080995	Oct 12, 2018 (152)
55	ILLUMINA	ss3633784628	Oct 12, 2018 (152)
56	ILLUMINA	ss3636272882	Oct 12, 2018 (152)
57	ILLUMINA	ss3638058637	Oct 12, 2018 (152)
58	ILLUMINA	ss3639042763	Oct 12, 2018 (152)
59	ILLUMINA	ss3639830767	Oct 12, 2018 (152)
60	ILLUMINA	ss3643044831	Oct 12, 2018 (152)
61	ILLUMINA	ss3643881238	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3679688936	Jul 13, 2019 (153)
63	EVA_DECODE	ss3696958162	Jul 13, 2019 (153)
64	ACPOP	ss3740507446	Jul 13, 2019 (153)
65	EVA	ss3752496356	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3817824146	Jul 13, 2019 (153)
67	EVA	ss3840587344	Apr 27, 2020 (154)
68	EVA	ss3846076863	Apr 27, 2020 (154)
69	HGDP	ss3847508043	Apr 27, 2020 (154)
70	SGDP_PRJ	ss3881802430	Apr 27, 2020 (154)
71	KRGDB	ss3930850120	Apr 27, 2020 (154)
72	KOGIC	ss3975210209	Apr 27, 2020 (154)
73	EVA	ss3985688269	Apr 27, 2021 (155)
74	EVA	ss4017677672	Apr 27, 2021 (155)
75	TOPMED	ss4975566360	Apr 27, 2021 (155)
76	TOMMO_GENOMICS	ss5213870744	Apr 27, 2021 (155)
77	1000G_HIGH_COVERAGE	ss5296718033	Oct 17, 2022 (156)
78	EVA	ss5416160185	Oct 17, 2022 (156)
79	HUGCELL_USP	ss5490713309	Oct 17, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5597247660	Oct 17, 2022 (156)
81	SANFORD_IMAGENETICS	ss5656501057	Oct 17, 2022 (156)
82	TOMMO_GENOMICS	ss5766858174	Oct 17, 2022 (156)
83	YY_MCH	ss5814873631	Oct 17, 2022 (156)
84	EVA	ss5841305079	Oct 17, 2022 (156)
85	EVA	ss5851093959	Oct 17, 2022 (156)
86	EVA	ss5901910380	Oct 17, 2022 (156)
87	EVA	ss5947947277	Oct 17, 2022 (156)
88	1000Genomes	NC_000014.8 - 72553266	Oct 12, 2018 (152)
89	1000Genomes_30x	NC_000014.9 - 72086549	Oct 17, 2022 (156)
90	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 72553266	Oct 12, 2018 (152)
91	Genome-wide autozygosity in Daghestan	NC_000014.7 - 71623019	Apr 27, 2020 (154)
92	Genetic variation in the Estonian population	NC_000014.8 - 72553266	Oct 12, 2018 (152)
93	The Danish reference pan genome	NC_000014.8 - 72553266	Apr 27, 2020 (154)
94	gnomAD - Genomes	NC_000014.9 - 72086549	Apr 27, 2021 (155)
95	Genome of the Netherlands Release 5	NC_000014.8 - 72553266	Apr 27, 2020 (154)
96	HGDP-CEPH-db Supplement 1	NC_000014.7 - 71623019	Apr 27, 2020 (154)
97	HapMap	NC_000014.9 - 72086549	Apr 27, 2020 (154)
98	KOREAN population from KRGDB	NC_000014.8 - 72553266	Apr 27, 2020 (154)
99	Korean Genome Project	NC_000014.9 - 72086549	Apr 27, 2020 (154)
100	Northern Sweden	NC_000014.8 - 72553266	Jul 13, 2019 (153)
101	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 72553266	Apr 27, 2021 (155)
102	Qatari	NC_000014.8 - 72553266	Apr 27, 2020 (154)
103	SGDP_PRJ	NC_000014.8 - 72553266	Apr 27, 2020 (154)
104	Siberian	NC_000014.8 - 72553266	Apr 27, 2020 (154)
105	8.3KJPN	NC_000014.8 - 72553266	Apr 27, 2021 (155)
106	14KJPN	NC_000014.9 - 72086549	Oct 17, 2022 (156)
107	TopMed	NC_000014.9 - 72086549	Apr 27, 2021 (155)
108	UK 10K study - Twins	NC_000014.8 - 72553266	Oct 12, 2018 (152)
109	A Vietnamese Genetic Variation Database	NC_000014.8 - 72553266	Jul 13, 2019 (153)
110	ALFA	NC_000014.9 - 72086549	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)
rs60312927	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38027514, ss3930850120	NC_000014.8:72553265:A:C	NC_000014.9:72086548:A:C	(self)
154758, 185935, ss108444521, ss160433751, ss206913395, ss282057224, ss480209693, ss1397684448, ss1695300389, ss1713455230, ss3639042763, ss3639830767, ss3643044831, ss3643881238, ss3847508043	NC_000014.7:71623018:A:G	NC_000014.9:72086548:A:G	(self)
64570869, 35880280, 25427184, 3662019, 16023562, 38027514, 13792311, 914196, 16708982, 33819410, 9006982, 71840051, 35880280, 7981107, ss226641855, ss236596885, ss243019317, ss480220119, ss480951272, ss484902836, ss536957115, ss564177163, ss659867110, ss780672013, ss782897741, ss783861133, ss832152475, ss832824545, ss833415375, ss836168089, ss991296435, ss1079766109, ss1351568674, ss1427465602, ss1577341826, ss1632040935, ss1675034968, ss1934667052, ss2028115581, ss2156490628, ss2700922397, ss2929307670, ss3012432278, ss3627251869, ss3631166162, ss3633080995, ss3633784628, ss3636272882, ss3638058637, ss3679688936, ss3740507446, ss3752496356, ss3840587344, ss3881802430, ss3930850120, ss3985688269, ss4017677672, ss5213870744, ss5416160185, ss5656501057, ss5841305079, ss5947947277	NC_000014.8:72553265:A:G	NC_000014.9:72086548:A:G	(self)
84773595, 455279984, 1172687, 31588210, 100695278, 191112019, 12245517444, ss2203155336, ss3696958162, ss3817824146, ss3846076863, ss3975210209, ss4975566360, ss5296718033, ss5490713309, ss5597247660, ss5766858174, ss5814873631, ss5851093959, ss5901910380	NC_000014.9:72086548:A:G	NC_000014.9:72086548:A:G	(self)
ss24605672, ss67180628, ss67547957, ss68177156, ss69161574, ss70658663, ss71219562, ss75587844, ss85373825, ss103197466, ss153647698, ss159312491, ss172779755	NT_026437.12:53553265:A:G	NC_000014.9:72086548:A: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 rs17179483

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs17179483