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dbSNP Short Genetic Variations

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.

rs2283389

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:72336986 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.085341 (22589/264690, TOPMED)
G=0.079146 (11088/140096, GnomAD)
G=0.05855 (2109/36022, ALFA) (+ 19 more)
G=0.33615 (9499/28258, 14KJPN)
G=0.33854 (5674/16760, 8.3KJPN)
G=0.1257 (805/6404, 1000G_30x)
G=0.1290 (646/5008, 1000G)
G=0.0324 (145/4480, Estonian)
G=0.0480 (185/3854, ALSPAC)
G=0.0504 (187/3708, TWINSUK)
G=0.3075 (901/2930, KOREAN)
G=0.1243 (259/2084, HGDP_Stanford)
G=0.1364 (258/1892, HapMap)
G=0.2980 (546/1832, Korea1K)
G=0.043 (43/998, GoNL)
G=0.107 (64/600, NorthernSweden)
G=0.093 (20/216, Qatari)
G=0.259 (56/216, Vietnamese)
A=0.403 (54/134, SGDP_PRJ)
G=0.14 (10/74, Ancient Sardinia)
G=0.05 (2/40, GENOME_DK)
A=0.35 (7/20, 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 36022 A=0.94145 G=0.05855
European Sub 28574 A=0.95307 G=0.04693
African Sub 4310 A=0.8905 G=0.1095
African Others Sub 158 A=0.880 G=0.120
African American Sub 4152 A=0.8909 G=0.1091
Asian Sub 136 A=0.654 G=0.346
East Asian Sub 108 A=0.676 G=0.324
Other Asian Sub 28 A=0.57 G=0.43
Latin American 1 Sub 182 A=0.923 G=0.077
Latin American 2 Sub 754 A=0.898 G=0.102
South Asian Sub 114 A=0.965 G=0.035
Other Sub 1952 A=0.9211 G=0.0789


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.914659 G=0.085341
gnomAD - Genomes Global Study-wide 140096 A=0.920854 G=0.079146
gnomAD - Genomes European Sub 75908 A=0.94958 G=0.05042
gnomAD - Genomes African Sub 41944 A=0.89033 G=0.10967
gnomAD - Genomes American Sub 13642 A=0.89195 G=0.10805
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9356 G=0.0644
gnomAD - Genomes East Asian Sub 3126 A=0.7422 G=0.2578
gnomAD - Genomes Other Sub 2152 A=0.9224 G=0.0776
Allele Frequency Aggregator Total Global 36022 A=0.94145 G=0.05855
Allele Frequency Aggregator European Sub 28574 A=0.95307 G=0.04693
Allele Frequency Aggregator African Sub 4310 A=0.8905 G=0.1095
Allele Frequency Aggregator Other Sub 1952 A=0.9211 G=0.0789
Allele Frequency Aggregator Latin American 2 Sub 754 A=0.898 G=0.102
Allele Frequency Aggregator Latin American 1 Sub 182 A=0.923 G=0.077
Allele Frequency Aggregator Asian Sub 136 A=0.654 G=0.346
Allele Frequency Aggregator South Asian Sub 114 A=0.965 G=0.035
14KJPN JAPANESE Study-wide 28258 A=0.66385 G=0.33615
8.3KJPN JAPANESE Study-wide 16760 A=0.66146 G=0.33854
1000Genomes_30x Global Study-wide 6404 A=0.8743 G=0.1257
1000Genomes_30x African Sub 1786 A=0.8634 G=0.1366
1000Genomes_30x Europe Sub 1266 A=0.9392 G=0.0608
1000Genomes_30x South Asian Sub 1202 A=0.9601 G=0.0399
1000Genomes_30x East Asian Sub 1170 A=0.7350 G=0.2650
1000Genomes_30x American Sub 980 A=0.871 G=0.129
1000Genomes Global Study-wide 5008 A=0.8710 G=0.1290
1000Genomes African Sub 1322 A=0.8661 G=0.1339
1000Genomes East Asian Sub 1008 A=0.7292 G=0.2708
1000Genomes Europe Sub 1006 A=0.9384 G=0.0616
1000Genomes South Asian Sub 978 A=0.960 G=0.040
1000Genomes American Sub 694 A=0.863 G=0.137
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9676 G=0.0324
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9520 G=0.0480
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9496 G=0.0504
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6925 G=0.3075
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.8757 G=0.1243
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.798 G=0.202
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.923 G=0.077
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.934 G=0.066
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.941 G=0.059
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.868 G=0.132
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.880 G=0.120
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.56 G=0.44
HapMap Global Study-wide 1892 A=0.8636 G=0.1364
HapMap American Sub 770 A=0.890 G=0.110
HapMap African Sub 692 A=0.897 G=0.103
HapMap Asian Sub 254 A=0.622 G=0.378
HapMap Europe Sub 176 A=0.966 G=0.034
Korean Genome Project KOREAN Study-wide 1832 A=0.7020 G=0.2980
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.957 G=0.043
Northern Sweden ACPOP Study-wide 600 A=0.893 G=0.107
Qatari Global Study-wide 216 A=0.907 G=0.093
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.741 G=0.259
SGDP_PRJ Global Study-wide 134 A=0.403 G=0.597
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 A=0.86 G=0.14
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Siberian Global Study-wide 20 A=0.35 G=0.65
Help

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.72336986A>G
GRCh37.p13 chr 14 NC_000014.8:g.72803694A>G
RGS6 RefSeqGene NG_029236.1:g.409878A>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.85-15109…

NM_001204416.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 3 NM_001204417.3:c.85-15109…

NM_001204417.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 4 NM_001204418.3:c.85-15109…

NM_001204418.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 5 NM_001204419.3:c.85-15109…

NM_001204419.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 6 NM_001204420.3:c.85-15109…

NM_001204420.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 7 NM_001204421.3:c.85-15109…

NM_001204421.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 8 NM_001204422.3:c.85-15109…

NM_001204422.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 9 NM_001204423.2:c.-21-1510…

NM_001204423.2:c.-21-15109A>G

N/A Intron Variant
RGS6 transcript variant 10 NM_001204424.2:c.85-15109…

NM_001204424.2:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 12 NM_001370270.1:c.85-15109…

NM_001370270.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 13 NM_001370271.1:c.85-15109…

NM_001370271.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 14 NM_001370272.1:c.85-15109…

NM_001370272.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 15 NM_001370273.1:c.85-15109…

NM_001370273.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 16 NM_001370274.1:c.85-15109…

NM_001370274.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 17 NM_001370275.1:c.85-15109…

NM_001370275.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 18 NM_001370276.1:c.85-15109…

NM_001370276.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 19 NM_001370277.1:c.85-15109…

NM_001370277.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 20 NM_001370278.1:c.85-15109…

NM_001370278.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 21 NM_001370279.1:c.85-15109…

NM_001370279.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 22 NM_001370280.1:c.85-15109…

NM_001370280.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 23 NM_001370281.1:c.85-15109…

NM_001370281.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 24 NM_001370282.1:c.85-15109…

NM_001370282.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 25 NM_001370283.1:c.85-15109…

NM_001370283.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 26 NM_001370284.1:c.85-15109…

NM_001370284.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 27 NM_001370286.1:c.85-15109…

NM_001370286.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 28 NM_001370287.1:c.85-15109…

NM_001370287.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 29 NM_001370288.1:c.85-15109…

NM_001370288.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 30 NM_001370289.1:c.85-15109…

NM_001370289.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 31 NM_001370290.1:c.85-15109…

NM_001370290.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 32 NM_001370291.1:c.85-15109…

NM_001370291.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 33 NM_001370292.1:c.85-15109…

NM_001370292.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 34 NM_001370293.1:c.85-15109…

NM_001370293.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 35 NM_001370294.1:c.85-15109…

NM_001370294.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant 2 NM_004296.7:c.85-15109A>G N/A Intron Variant
RGS6 transcript variant 11 NR_135235.2:n. N/A Intron Variant
RGS6 transcript variant X4 XM_017021820.3:c.85-15109…

XM_017021820.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X9 XM_017021822.3:c.85-15109…

XM_017021822.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X11 XM_017021825.3:c.85-15109…

XM_017021825.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X12 XM_017021826.3:c.85-15109…

XM_017021826.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X13 XM_017021827.3:c.85-15109…

XM_017021827.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X15 XM_017021828.3:c.85-15109…

XM_017021828.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X16 XM_017021830.3:c.85-15109…

XM_017021830.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X17 XM_017021831.3:c.85-15109…

XM_017021831.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X18 XM_017021832.3:c.85-15109…

XM_017021832.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X21 XM_017021833.3:c.85-15109…

XM_017021833.3:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X1 XM_024449759.2:c.85-15109…

XM_024449759.2:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X3 XM_024449760.2:c.85-15109…

XM_024449760.2:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X2 XM_024449761.2:c.85-15109…

XM_024449761.2:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X19 XM_024449776.2:c.85-15109…

XM_024449776.2:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X10 XM_047431987.1:c.85-15109…

XM_047431987.1:c.85-15109A>G

N/A Intron Variant
RGS6 transcript variant X20 XM_047431990.1:c.85-15109…

XM_047431990.1:c.85-15109A>G

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
Help

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
Help

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= G
GRCh38.p14 chr 14 NC_000014.9:g.72336986= NC_000014.9:g.72336986A>G
GRCh37.p13 chr 14 NC_000014.8:g.72803694= NC_000014.8:g.72803694A>G
RGS6 RefSeqGene NG_029236.1:g.409878= NG_029236.1:g.409878A>G
RGS6 transcript variant 1 NM_001204416.1:c.85-15109= NM_001204416.1:c.85-15109A>G
RGS6 transcript variant 1 NM_001204416.3:c.85-15109= NM_001204416.3:c.85-15109A>G
RGS6 transcript variant 3 NM_001204417.1:c.85-15109= NM_001204417.1:c.85-15109A>G
RGS6 transcript variant 3 NM_001204417.3:c.85-15109= NM_001204417.3:c.85-15109A>G
RGS6 transcript variant 4 NM_001204418.1:c.85-15109= NM_001204418.1:c.85-15109A>G
RGS6 transcript variant 4 NM_001204418.3:c.85-15109= NM_001204418.3:c.85-15109A>G
RGS6 transcript variant 5 NM_001204419.1:c.85-15109= NM_001204419.1:c.85-15109A>G
RGS6 transcript variant 5 NM_001204419.3:c.85-15109= NM_001204419.3:c.85-15109A>G
RGS6 transcript variant 6 NM_001204420.1:c.85-15109= NM_001204420.1:c.85-15109A>G
RGS6 transcript variant 6 NM_001204420.3:c.85-15109= NM_001204420.3:c.85-15109A>G
RGS6 transcript variant 7 NM_001204421.1:c.85-15109= NM_001204421.1:c.85-15109A>G
RGS6 transcript variant 7 NM_001204421.3:c.85-15109= NM_001204421.3:c.85-15109A>G
RGS6 transcript variant 8 NM_001204422.1:c.85-15109= NM_001204422.1:c.85-15109A>G
RGS6 transcript variant 8 NM_001204422.3:c.85-15109= NM_001204422.3:c.85-15109A>G
RGS6 transcript variant 9 NM_001204423.1:c.-21-15109= NM_001204423.1:c.-21-15109A>G
RGS6 transcript variant 9 NM_001204423.2:c.-21-15109= NM_001204423.2:c.-21-15109A>G
RGS6 transcript variant 10 NM_001204424.1:c.85-15109= NM_001204424.1:c.85-15109A>G
RGS6 transcript variant 10 NM_001204424.2:c.85-15109= NM_001204424.2:c.85-15109A>G
RGS6 transcript variant 12 NM_001370270.1:c.85-15109= NM_001370270.1:c.85-15109A>G
RGS6 transcript variant 13 NM_001370271.1:c.85-15109= NM_001370271.1:c.85-15109A>G
RGS6 transcript variant 14 NM_001370272.1:c.85-15109= NM_001370272.1:c.85-15109A>G
RGS6 transcript variant 15 NM_001370273.1:c.85-15109= NM_001370273.1:c.85-15109A>G
RGS6 transcript variant 16 NM_001370274.1:c.85-15109= NM_001370274.1:c.85-15109A>G
RGS6 transcript variant 17 NM_001370275.1:c.85-15109= NM_001370275.1:c.85-15109A>G
RGS6 transcript variant 18 NM_001370276.1:c.85-15109= NM_001370276.1:c.85-15109A>G
RGS6 transcript variant 19 NM_001370277.1:c.85-15109= NM_001370277.1:c.85-15109A>G
RGS6 transcript variant 20 NM_001370278.1:c.85-15109= NM_001370278.1:c.85-15109A>G
RGS6 transcript variant 21 NM_001370279.1:c.85-15109= NM_001370279.1:c.85-15109A>G
RGS6 transcript variant 22 NM_001370280.1:c.85-15109= NM_001370280.1:c.85-15109A>G
RGS6 transcript variant 23 NM_001370281.1:c.85-15109= NM_001370281.1:c.85-15109A>G
RGS6 transcript variant 24 NM_001370282.1:c.85-15109= NM_001370282.1:c.85-15109A>G
RGS6 transcript variant 25 NM_001370283.1:c.85-15109= NM_001370283.1:c.85-15109A>G
RGS6 transcript variant 26 NM_001370284.1:c.85-15109= NM_001370284.1:c.85-15109A>G
RGS6 transcript variant 27 NM_001370286.1:c.85-15109= NM_001370286.1:c.85-15109A>G
RGS6 transcript variant 28 NM_001370287.1:c.85-15109= NM_001370287.1:c.85-15109A>G
RGS6 transcript variant 29 NM_001370288.1:c.85-15109= NM_001370288.1:c.85-15109A>G
RGS6 transcript variant 30 NM_001370289.1:c.85-15109= NM_001370289.1:c.85-15109A>G
RGS6 transcript variant 31 NM_001370290.1:c.85-15109= NM_001370290.1:c.85-15109A>G
RGS6 transcript variant 32 NM_001370291.1:c.85-15109= NM_001370291.1:c.85-15109A>G
RGS6 transcript variant 33 NM_001370292.1:c.85-15109= NM_001370292.1:c.85-15109A>G
RGS6 transcript variant 34 NM_001370293.1:c.85-15109= NM_001370293.1:c.85-15109A>G
RGS6 transcript variant 35 NM_001370294.1:c.85-15109= NM_001370294.1:c.85-15109A>G
RGS6 transcript variant 2 NM_004296.5:c.85-15109= NM_004296.5:c.85-15109A>G
RGS6 transcript variant 2 NM_004296.7:c.85-15109= NM_004296.7:c.85-15109A>G
RGS6 transcript variant X1 XM_005268231.1:c.85-15109= XM_005268231.1:c.85-15109A>G
RGS6 transcript variant X3 XM_005268233.1:c.85-15109= XM_005268233.1:c.85-15109A>G
RGS6 transcript variant X4 XM_005268234.1:c.85-15109= XM_005268234.1:c.85-15109A>G
RGS6 transcript variant X5 XM_005268235.1:c.85-15109= XM_005268235.1:c.85-15109A>G
RGS6 transcript variant X21 XM_005268236.1:c.85-15109= XM_005268236.1:c.85-15109A>G
RGS6 transcript variant X4 XM_017021820.3:c.85-15109= XM_017021820.3:c.85-15109A>G
RGS6 transcript variant X9 XM_017021822.3:c.85-15109= XM_017021822.3:c.85-15109A>G
RGS6 transcript variant X11 XM_017021825.3:c.85-15109= XM_017021825.3:c.85-15109A>G
RGS6 transcript variant X12 XM_017021826.3:c.85-15109= XM_017021826.3:c.85-15109A>G
RGS6 transcript variant X13 XM_017021827.3:c.85-15109= XM_017021827.3:c.85-15109A>G
RGS6 transcript variant X15 XM_017021828.3:c.85-15109= XM_017021828.3:c.85-15109A>G
RGS6 transcript variant X16 XM_017021830.3:c.85-15109= XM_017021830.3:c.85-15109A>G
RGS6 transcript variant X17 XM_017021831.3:c.85-15109= XM_017021831.3:c.85-15109A>G
RGS6 transcript variant X18 XM_017021832.3:c.85-15109= XM_017021832.3:c.85-15109A>G
RGS6 transcript variant X21 XM_017021833.3:c.85-15109= XM_017021833.3:c.85-15109A>G
RGS6 transcript variant X1 XM_024449759.2:c.85-15109= XM_024449759.2:c.85-15109A>G
RGS6 transcript variant X3 XM_024449760.2:c.85-15109= XM_024449760.2:c.85-15109A>G
RGS6 transcript variant X2 XM_024449761.2:c.85-15109= XM_024449761.2:c.85-15109A>G
RGS6 transcript variant X19 XM_024449776.2:c.85-15109= XM_024449776.2:c.85-15109A>G
RGS6 transcript variant X10 XM_047431987.1:c.85-15109= XM_047431987.1:c.85-15109A>G
RGS6 transcript variant X20 XM_047431990.1:c.85-15109= XM_047431990.1:c.85-15109A>G
Help

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#.

80 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3222805 Sep 28, 2001 (100)
2 WI_SSAHASNP ss6775874 Feb 20, 2003 (126)
3 ILLUMINA ss67767467 Dec 01, 2006 (127)
4 ILLUMINA ss71639197 May 18, 2007 (127)
5 ILLUMINA ss75348479 Dec 07, 2007 (129)
6 HGSV ss77233108 Dec 07, 2007 (129)
7 HUMANGENOME_JCVI ss96927374 Feb 05, 2009 (130)
8 BGI ss103197851 Dec 01, 2009 (131)
9 1000GENOMES ss108446758 Jan 23, 2009 (130)
10 KRIBB_YJKIM ss119427306 Dec 01, 2009 (131)
11 ENSEMBL ss142840433 Dec 01, 2009 (131)
12 ILLUMINA ss173248842 Jul 04, 2010 (132)
13 1000GENOMES ss226643104 Jul 14, 2010 (132)
14 1000GENOMES ss236597874 Jul 15, 2010 (132)
15 1000GENOMES ss243020117 Jul 15, 2010 (132)
16 GMI ss282058078 May 04, 2012 (137)
17 PJP ss291626940 May 09, 2011 (134)
18 ILLUMINA ss483328672 May 04, 2012 (137)
19 ILLUMINA ss484311058 May 04, 2012 (137)
20 ILLUMINA ss536494948 Sep 08, 2015 (146)
21 TISHKOFF ss564178609 Apr 25, 2013 (138)
22 SSMP ss659868528 Apr 25, 2013 (138)
23 ILLUMINA ss779447042 Aug 21, 2014 (142)
24 ILLUMINA ss782601724 Aug 21, 2014 (142)
25 ILLUMINA ss834916545 Aug 21, 2014 (142)
26 EVA-GONL ss991298800 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1079767833 Aug 21, 2014 (142)
28 1000GENOMES ss1351577115 Aug 21, 2014 (142)
29 DDI ss1427466311 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1577343211 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1632045731 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1675039764 Apr 01, 2015 (144)
33 EVA_DECODE ss1695302754 Apr 01, 2015 (144)
34 EVA_SVP ss1713455469 Apr 01, 2015 (144)
35 HAMMER_LAB ss1807982323 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1934669393 Feb 12, 2016 (147)
37 GENOMED ss1967995087 Jul 19, 2016 (147)
38 JJLAB ss2028116781 Sep 14, 2016 (149)
39 USC_VALOUEV ss2156491818 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2203172394 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2628546988 Nov 08, 2017 (151)
42 ILLUMINA ss2633169347 Nov 08, 2017 (151)
43 GRF ss2700923710 Nov 08, 2017 (151)
44 GNOMAD ss2929329582 Nov 08, 2017 (151)
45 SWEGEN ss3012435338 Nov 08, 2017 (151)
46 CSHL ss3350873497 Nov 08, 2017 (151)
47 ILLUMINA ss3627252389 Oct 12, 2018 (152)
48 ILLUMINA ss3631166450 Oct 12, 2018 (152)
49 ILLUMINA ss3638058776 Oct 12, 2018 (152)
50 ILLUMINA ss3643044963 Oct 12, 2018 (152)
51 URBANLAB ss3650235392 Oct 12, 2018 (152)
52 EGCUT_WGS ss3679692314 Jul 13, 2019 (153)
53 EVA_DECODE ss3696962096 Jul 13, 2019 (153)
54 ACPOP ss3740509188 Jul 13, 2019 (153)
55 EVA ss3752499217 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3817826532 Jul 13, 2019 (153)
57 EVA ss3833993258 Apr 27, 2020 (154)
58 EVA ss3840588060 Apr 27, 2020 (154)
59 EVA ss3846077592 Apr 27, 2020 (154)
60 HGDP ss3847508160 Apr 27, 2020 (154)
61 SGDP_PRJ ss3881806192 Apr 27, 2020 (154)
62 KRGDB ss3930854545 Apr 27, 2020 (154)
63 KOGIC ss3975214208 Apr 27, 2020 (154)
64 EVA ss3985688460 Apr 26, 2021 (155)
65 EVA ss4017677816 Apr 26, 2021 (155)
66 TOPMED ss4975634268 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5213879108 Apr 26, 2021 (155)
68 1000G_HIGH_COVERAGE ss5296724916 Oct 17, 2022 (156)
69 EVA ss5315747823 Oct 17, 2022 (156)
70 EVA ss5416173074 Oct 17, 2022 (156)
71 HUGCELL_USP ss5490719716 Oct 17, 2022 (156)
72 EVA ss5511293856 Oct 17, 2022 (156)
73 1000G_HIGH_COVERAGE ss5597258249 Oct 17, 2022 (156)
74 SANFORD_IMAGENETICS ss5656505088 Oct 17, 2022 (156)
75 TOMMO_GENOMICS ss5766868888 Oct 17, 2022 (156)
76 YY_MCH ss5814875490 Oct 17, 2022 (156)
77 EVA ss5841307850 Oct 17, 2022 (156)
78 EVA ss5851094955 Oct 17, 2022 (156)
79 EVA ss5901918984 Oct 17, 2022 (156)
80 EVA ss5947951762 Oct 17, 2022 (156)
81 1000Genomes NC_000014.8 - 72803694 Oct 12, 2018 (152)
82 1000Genomes_30x NC_000014.9 - 72336986 Oct 17, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 72803694 Oct 12, 2018 (152)
84 Genetic variation in the Estonian population NC_000014.8 - 72803694 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000014.8 - 72803694 Apr 27, 2020 (154)
86 gnomAD - Genomes NC_000014.9 - 72336986 Apr 26, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000014.8 - 72803694 Apr 27, 2020 (154)
88 HGDP-CEPH-db Supplement 1 NC_000014.7 - 71873447 Apr 27, 2020 (154)
89 HapMap NC_000014.9 - 72336986 Apr 27, 2020 (154)
90 KOREAN population from KRGDB NC_000014.8 - 72803694 Apr 27, 2020 (154)
91 Korean Genome Project NC_000014.9 - 72336986 Apr 27, 2020 (154)
92 Northern Sweden NC_000014.8 - 72803694 Jul 13, 2019 (153)
93 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 72803694 Apr 26, 2021 (155)
94 Qatari NC_000014.8 - 72803694 Apr 27, 2020 (154)
95 SGDP_PRJ NC_000014.8 - 72803694 Apr 27, 2020 (154)
96 Siberian NC_000014.8 - 72803694 Apr 27, 2020 (154)
97 8.3KJPN NC_000014.8 - 72803694 Apr 26, 2021 (155)
98 14KJPN NC_000014.9 - 72336986 Oct 17, 2022 (156)
99 TopMed NC_000014.9 - 72336986 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000014.8 - 72803694 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000014.8 - 72803694 Jul 13, 2019 (153)
102 ALFA NC_000014.9 - 72336986 Apr 26, 2021 (155)
Help

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)
rs4903012 Mar 11, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
186052, ss77233108, ss108446758, ss282058078, ss291626940, ss483328672, ss1695302754, ss1713455469, ss3643044963, ss3847508160 NC_000014.7:71873446:A:G NC_000014.9:72336985:A:G (self)
64579550, 35885438, 25430562, 3663010, 16025911, 38031939, 13794053, 914387, 16711323, 33823172, 9008172, 71848415, 35885438, 7982342, ss226643104, ss236597874, ss243020117, ss484311058, ss536494948, ss564178609, ss659868528, ss779447042, ss782601724, ss834916545, ss991298800, ss1079767833, ss1351577115, ss1427466311, ss1577343211, ss1632045731, ss1675039764, ss1807982323, ss1934669393, ss1967995087, ss2028116781, ss2156491818, ss2628546988, ss2633169347, ss2700923710, ss2929329582, ss3012435338, ss3350873497, ss3627252389, ss3631166450, ss3638058776, ss3679692314, ss3740509188, ss3752499217, ss3833993258, ss3840588060, ss3881806192, ss3930854545, ss3985688460, ss4017677816, ss5213879108, ss5315747823, ss5416173074, ss5511293856, ss5656505088, ss5841307850, ss5947951762 NC_000014.8:72803693:A:G NC_000014.9:72336985:A:G (self)
84784184, 455334530, 1173276, 31592209, 100705992, 191179927, 57299353, ss2203172394, ss3650235392, ss3696962096, ss3817826532, ss3846077592, ss3975214208, ss4975634268, ss5296724916, ss5490719716, ss5597258249, ss5766868888, ss5814875490, ss5851094955, ss5901918984 NC_000014.9:72336985:A:G NC_000014.9:72336985:A:G (self)
ss3222805, ss6775874, ss67767467, ss71639197, ss75348479, ss96927374, ss103197851, ss119427306, ss142840433, ss173248842 NT_026437.12:53803693:A:G NC_000014.9:72336985:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs2283389

Help

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.

Software version is: 2.0.1.post761+d5e8e07