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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.

rs148306358

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:72405945 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.016982 (4495/264690, TOPMED)
A=0.019121 (2682/140266, GnomAD)
A=0.02027 (389/19190, ALFA) (+ 15 more)
A=0.00006 (1/16760, 8.3KJPN)
A=0.0105 (67/6404, 1000G_30x)
A=0.0098 (49/5008, 1000G)
A=0.0143 (64/4480, Estonian)
A=0.0335 (129/3854, ALSPAC)
A=0.0375 (139/3708, TWINSUK)
A=0.0003 (1/2922, KOREAN)
A=0.033 (33/998, GoNL)
A=0.037 (22/600, NorthernSweden)
A=0.019 (4/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.50 (8/16, SGDP_PRJ)
A=0.50 (8/16, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS6 : Intron Variant
LOC105370559 : Non Coding Transcript 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 19190 G=0.97973 A=0.02027
European Sub 14286 G=0.97585 A=0.02415
African Sub 2970 G=0.9970 A=0.0030
African Others Sub 114 G=1.000 A=0.000
African American Sub 2856 G=0.9968 A=0.0032
Asian Sub 116 G=1.000 A=0.000
East Asian Sub 88 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 154 G=0.987 A=0.013
Latin American 2 Sub 616 G=0.987 A=0.013
South Asian Sub 98 G=0.96 A=0.04
Other Sub 950 G=0.978 A=0.022


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 G=0.983018 A=0.016982
gnomAD - Genomes Global Study-wide 140266 G=0.980879 A=0.019121
gnomAD - Genomes European Sub 75938 G=0.97121 A=0.02879
gnomAD - Genomes African Sub 42062 G=0.99486 A=0.00514
gnomAD - Genomes American Sub 13656 G=0.98777 A=0.01223
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9786 A=0.0214
gnomAD - Genomes East Asian Sub 3134 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2154 G=0.9810 A=0.0190
Allele Frequency Aggregator Total Global 19190 G=0.97973 A=0.02027
Allele Frequency Aggregator European Sub 14286 G=0.97585 A=0.02415
Allele Frequency Aggregator African Sub 2970 G=0.9970 A=0.0030
Allele Frequency Aggregator Other Sub 950 G=0.978 A=0.022
Allele Frequency Aggregator Latin American 2 Sub 616 G=0.987 A=0.013
Allele Frequency Aggregator Latin American 1 Sub 154 G=0.987 A=0.013
Allele Frequency Aggregator Asian Sub 116 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.96 A=0.04
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
1000Genomes_30x Global Study-wide 6404 G=0.9895 A=0.0105
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0006
1000Genomes_30x Europe Sub 1266 G=0.9795 A=0.0205
1000Genomes_30x South Asian Sub 1202 G=0.9784 A=0.0216
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.986 A=0.014
1000Genomes Global Study-wide 5008 G=0.9902 A=0.0098
1000Genomes African Sub 1322 G=0.9992 A=0.0008
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9801 A=0.0199
1000Genomes South Asian Sub 978 G=0.980 A=0.020
1000Genomes American Sub 694 G=0.988 A=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9857 A=0.0143
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9665 A=0.0335
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9625 A=0.0375
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9997 A=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.967 A=0.033
Northern Sweden ACPOP Study-wide 600 G=0.963 A=0.037
Qatari Global Study-wide 216 G=0.981 A=0.019
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
SGDP_PRJ Global Study-wide 16 G=0.50 A=0.50
Siberian Global Study-wide 2 G=0.5 A=0.5
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.72405945G>A
GRCh38.p14 chr 14 NC_000014.9:g.72405945G>T
GRCh37.p13 chr 14 NC_000014.8:g.72872653G>A
GRCh37.p13 chr 14 NC_000014.8:g.72872653G>T
RGS6 RefSeqGene NG_029236.1:g.478837G>A
RGS6 RefSeqGene NG_029236.1:g.478837G>T
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.185-4858…

NM_001204416.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 3 NM_001204417.3:c.185-4858…

NM_001204417.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 4 NM_001204418.3:c.185-4858…

NM_001204418.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 5 NM_001204419.3:c.185-4858…

NM_001204419.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 6 NM_001204420.3:c.185-4858…

NM_001204420.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 7 NM_001204421.3:c.185-4858…

NM_001204421.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 8 NM_001204422.3:c.185-4858…

NM_001204422.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 9 NM_001204423.2:c.80-48583…

NM_001204423.2:c.80-48583G>A

N/A Intron Variant
RGS6 transcript variant 10 NM_001204424.2:c.185-4858…

NM_001204424.2:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 12 NM_001370270.1:c.185-4858…

NM_001370270.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 13 NM_001370271.1:c.185-4858…

NM_001370271.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 14 NM_001370272.1:c.185-4858…

NM_001370272.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 15 NM_001370273.1:c.185-4858…

NM_001370273.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 16 NM_001370274.1:c.185-4858…

NM_001370274.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 17 NM_001370275.1:c.185-4858…

NM_001370275.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 18 NM_001370276.1:c.185-4858…

NM_001370276.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 19 NM_001370277.1:c.185-4858…

NM_001370277.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 20 NM_001370278.1:c.185-4858…

NM_001370278.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 21 NM_001370279.1:c.185-4858…

NM_001370279.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 22 NM_001370280.1:c.185-4858…

NM_001370280.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 23 NM_001370281.1:c.185-4858…

NM_001370281.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 24 NM_001370282.1:c.185-4858…

NM_001370282.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 25 NM_001370283.1:c.185-4858…

NM_001370283.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 26 NM_001370284.1:c.185-4858…

NM_001370284.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 27 NM_001370286.1:c.185-4858…

NM_001370286.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 28 NM_001370287.1:c.185-4858…

NM_001370287.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 29 NM_001370288.1:c.185-4858…

NM_001370288.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 30 NM_001370289.1:c.185-4858…

NM_001370289.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 31 NM_001370290.1:c.185-4858…

NM_001370290.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 32 NM_001370291.1:c.185-4858…

NM_001370291.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 33 NM_001370292.1:c.185-4858…

NM_001370292.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 34 NM_001370293.1:c.185-4858…

NM_001370293.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 35 NM_001370294.1:c.185-4858…

NM_001370294.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant 2 NM_004296.7:c.185-48583G>A N/A Intron Variant
RGS6 transcript variant 11 NR_135235.2:n. N/A Intron Variant
RGS6 transcript variant X4 XM_017021820.3:c.185-4858…

XM_017021820.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X9 XM_017021822.3:c.185-4858…

XM_017021822.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X11 XM_017021825.3:c.185-4858…

XM_017021825.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X12 XM_017021826.3:c.185-4858…

XM_017021826.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X13 XM_017021827.3:c.185-4858…

XM_017021827.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X15 XM_017021828.3:c.185-4858…

XM_017021828.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X16 XM_017021830.3:c.185-4858…

XM_017021830.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X17 XM_017021831.3:c.185-4858…

XM_017021831.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X18 XM_017021832.3:c.185-4858…

XM_017021832.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X21 XM_017021833.3:c.185-4858…

XM_017021833.3:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X1 XM_024449759.2:c.185-4858…

XM_024449759.2:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X3 XM_024449760.2:c.185-4858…

XM_024449760.2:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X2 XM_024449761.2:c.185-4858…

XM_024449761.2:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X19 XM_024449776.2:c.185-4858…

XM_024449776.2:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X10 XM_047431987.1:c.185-4858…

XM_047431987.1:c.185-48583G>A

N/A Intron Variant
RGS6 transcript variant X20 XM_047431990.1:c.185-4858…

XM_047431990.1:c.185-48583G>A

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
Gene: LOC105370559, uncharacterized LOC105370559 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105370559 transcript variant X1 XR_944018.3:n.264C>T N/A Non Coding Transcript Variant
LOC105370559 transcript variant X1 XR_944018.3:n.264C>A N/A Non Coding Transcript Variant
LOC105370559 transcript variant X2 XR_944019.3:n.7732C>T N/A Non Coding Transcript Variant
LOC105370559 transcript variant X2 XR_944019.3:n.7732C>A N/A Non Coding 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 G= A T
GRCh38.p14 chr 14 NC_000014.9:g.72405945= NC_000014.9:g.72405945G>A NC_000014.9:g.72405945G>T
GRCh37.p13 chr 14 NC_000014.8:g.72872653= NC_000014.8:g.72872653G>A NC_000014.8:g.72872653G>T
RGS6 RefSeqGene NG_029236.1:g.478837= NG_029236.1:g.478837G>A NG_029236.1:g.478837G>T
LOC105370559 transcript variant X2 XR_944019.3:n.7732= XR_944019.3:n.7732C>T XR_944019.3:n.7732C>A
LOC105370559 transcript variant X3 XR_944019.2:n.737= XR_944019.2:n.737C>T XR_944019.2:n.737C>A
LOC105370559 transcript variant X3 XR_944019.1:n.737= XR_944019.1:n.737C>T XR_944019.1:n.737C>A
LOC105370559 transcript variant X1 XR_944018.3:n.264= XR_944018.3:n.264C>T XR_944018.3:n.264C>A
LOC105370559 transcript variant X2 XR_944018.2:n.941= XR_944018.2:n.941C>T XR_944018.2:n.941C>A
LOC105370559 transcript variant X2 XR_944018.1:n.1557= XR_944018.1:n.1557C>T XR_944018.1:n.1557C>A
RGS6 transcript variant 1 NM_001204416.1:c.185-48583= NM_001204416.1:c.185-48583G>A NM_001204416.1:c.185-48583G>T
RGS6 transcript variant 1 NM_001204416.3:c.185-48583= NM_001204416.3:c.185-48583G>A NM_001204416.3:c.185-48583G>T
RGS6 transcript variant 3 NM_001204417.1:c.185-48583= NM_001204417.1:c.185-48583G>A NM_001204417.1:c.185-48583G>T
RGS6 transcript variant 3 NM_001204417.3:c.185-48583= NM_001204417.3:c.185-48583G>A NM_001204417.3:c.185-48583G>T
RGS6 transcript variant 4 NM_001204418.1:c.185-48583= NM_001204418.1:c.185-48583G>A NM_001204418.1:c.185-48583G>T
RGS6 transcript variant 4 NM_001204418.3:c.185-48583= NM_001204418.3:c.185-48583G>A NM_001204418.3:c.185-48583G>T
RGS6 transcript variant 5 NM_001204419.1:c.185-48583= NM_001204419.1:c.185-48583G>A NM_001204419.1:c.185-48583G>T
RGS6 transcript variant 5 NM_001204419.3:c.185-48583= NM_001204419.3:c.185-48583G>A NM_001204419.3:c.185-48583G>T
RGS6 transcript variant 6 NM_001204420.1:c.185-48583= NM_001204420.1:c.185-48583G>A NM_001204420.1:c.185-48583G>T
RGS6 transcript variant 6 NM_001204420.3:c.185-48583= NM_001204420.3:c.185-48583G>A NM_001204420.3:c.185-48583G>T
RGS6 transcript variant 7 NM_001204421.1:c.185-48583= NM_001204421.1:c.185-48583G>A NM_001204421.1:c.185-48583G>T
RGS6 transcript variant 7 NM_001204421.3:c.185-48583= NM_001204421.3:c.185-48583G>A NM_001204421.3:c.185-48583G>T
RGS6 transcript variant 8 NM_001204422.1:c.185-48583= NM_001204422.1:c.185-48583G>A NM_001204422.1:c.185-48583G>T
RGS6 transcript variant 8 NM_001204422.3:c.185-48583= NM_001204422.3:c.185-48583G>A NM_001204422.3:c.185-48583G>T
RGS6 transcript variant 9 NM_001204423.1:c.80-48583= NM_001204423.1:c.80-48583G>A NM_001204423.1:c.80-48583G>T
RGS6 transcript variant 9 NM_001204423.2:c.80-48583= NM_001204423.2:c.80-48583G>A NM_001204423.2:c.80-48583G>T
RGS6 transcript variant 10 NM_001204424.1:c.185-48583= NM_001204424.1:c.185-48583G>A NM_001204424.1:c.185-48583G>T
RGS6 transcript variant 10 NM_001204424.2:c.185-48583= NM_001204424.2:c.185-48583G>A NM_001204424.2:c.185-48583G>T
RGS6 transcript variant 12 NM_001370270.1:c.185-48583= NM_001370270.1:c.185-48583G>A NM_001370270.1:c.185-48583G>T
RGS6 transcript variant 13 NM_001370271.1:c.185-48583= NM_001370271.1:c.185-48583G>A NM_001370271.1:c.185-48583G>T
RGS6 transcript variant 14 NM_001370272.1:c.185-48583= NM_001370272.1:c.185-48583G>A NM_001370272.1:c.185-48583G>T
RGS6 transcript variant 15 NM_001370273.1:c.185-48583= NM_001370273.1:c.185-48583G>A NM_001370273.1:c.185-48583G>T
RGS6 transcript variant 16 NM_001370274.1:c.185-48583= NM_001370274.1:c.185-48583G>A NM_001370274.1:c.185-48583G>T
RGS6 transcript variant 17 NM_001370275.1:c.185-48583= NM_001370275.1:c.185-48583G>A NM_001370275.1:c.185-48583G>T
RGS6 transcript variant 18 NM_001370276.1:c.185-48583= NM_001370276.1:c.185-48583G>A NM_001370276.1:c.185-48583G>T
RGS6 transcript variant 19 NM_001370277.1:c.185-48583= NM_001370277.1:c.185-48583G>A NM_001370277.1:c.185-48583G>T
RGS6 transcript variant 20 NM_001370278.1:c.185-48583= NM_001370278.1:c.185-48583G>A NM_001370278.1:c.185-48583G>T
RGS6 transcript variant 21 NM_001370279.1:c.185-48583= NM_001370279.1:c.185-48583G>A NM_001370279.1:c.185-48583G>T
RGS6 transcript variant 22 NM_001370280.1:c.185-48583= NM_001370280.1:c.185-48583G>A NM_001370280.1:c.185-48583G>T
RGS6 transcript variant 23 NM_001370281.1:c.185-48583= NM_001370281.1:c.185-48583G>A NM_001370281.1:c.185-48583G>T
RGS6 transcript variant 24 NM_001370282.1:c.185-48583= NM_001370282.1:c.185-48583G>A NM_001370282.1:c.185-48583G>T
RGS6 transcript variant 25 NM_001370283.1:c.185-48583= NM_001370283.1:c.185-48583G>A NM_001370283.1:c.185-48583G>T
RGS6 transcript variant 26 NM_001370284.1:c.185-48583= NM_001370284.1:c.185-48583G>A NM_001370284.1:c.185-48583G>T
RGS6 transcript variant 27 NM_001370286.1:c.185-48583= NM_001370286.1:c.185-48583G>A NM_001370286.1:c.185-48583G>T
RGS6 transcript variant 28 NM_001370287.1:c.185-48583= NM_001370287.1:c.185-48583G>A NM_001370287.1:c.185-48583G>T
RGS6 transcript variant 29 NM_001370288.1:c.185-48583= NM_001370288.1:c.185-48583G>A NM_001370288.1:c.185-48583G>T
RGS6 transcript variant 30 NM_001370289.1:c.185-48583= NM_001370289.1:c.185-48583G>A NM_001370289.1:c.185-48583G>T
RGS6 transcript variant 31 NM_001370290.1:c.185-48583= NM_001370290.1:c.185-48583G>A NM_001370290.1:c.185-48583G>T
RGS6 transcript variant 32 NM_001370291.1:c.185-48583= NM_001370291.1:c.185-48583G>A NM_001370291.1:c.185-48583G>T
RGS6 transcript variant 33 NM_001370292.1:c.185-48583= NM_001370292.1:c.185-48583G>A NM_001370292.1:c.185-48583G>T
RGS6 transcript variant 34 NM_001370293.1:c.185-48583= NM_001370293.1:c.185-48583G>A NM_001370293.1:c.185-48583G>T
RGS6 transcript variant 35 NM_001370294.1:c.185-48583= NM_001370294.1:c.185-48583G>A NM_001370294.1:c.185-48583G>T
RGS6 transcript variant 2 NM_004296.5:c.185-48583= NM_004296.5:c.185-48583G>A NM_004296.5:c.185-48583G>T
RGS6 transcript variant 2 NM_004296.7:c.185-48583= NM_004296.7:c.185-48583G>A NM_004296.7:c.185-48583G>T
RGS6 transcript variant X1 XM_005268231.1:c.185-48583= XM_005268231.1:c.185-48583G>A XM_005268231.1:c.185-48583G>T
RGS6 transcript variant X3 XM_005268233.1:c.185-48583= XM_005268233.1:c.185-48583G>A XM_005268233.1:c.185-48583G>T
RGS6 transcript variant X4 XM_005268234.1:c.185-48583= XM_005268234.1:c.185-48583G>A XM_005268234.1:c.185-48583G>T
RGS6 transcript variant X5 XM_005268235.1:c.185-48583= XM_005268235.1:c.185-48583G>A XM_005268235.1:c.185-48583G>T
RGS6 transcript variant X21 XM_005268236.1:c.185-48583= XM_005268236.1:c.185-48583G>A XM_005268236.1:c.185-48583G>T
RGS6 transcript variant X4 XM_017021820.3:c.185-48583= XM_017021820.3:c.185-48583G>A XM_017021820.3:c.185-48583G>T
RGS6 transcript variant X9 XM_017021822.3:c.185-48583= XM_017021822.3:c.185-48583G>A XM_017021822.3:c.185-48583G>T
RGS6 transcript variant X11 XM_017021825.3:c.185-48583= XM_017021825.3:c.185-48583G>A XM_017021825.3:c.185-48583G>T
RGS6 transcript variant X12 XM_017021826.3:c.185-48583= XM_017021826.3:c.185-48583G>A XM_017021826.3:c.185-48583G>T
RGS6 transcript variant X13 XM_017021827.3:c.185-48583= XM_017021827.3:c.185-48583G>A XM_017021827.3:c.185-48583G>T
RGS6 transcript variant X15 XM_017021828.3:c.185-48583= XM_017021828.3:c.185-48583G>A XM_017021828.3:c.185-48583G>T
RGS6 transcript variant X16 XM_017021830.3:c.185-48583= XM_017021830.3:c.185-48583G>A XM_017021830.3:c.185-48583G>T
RGS6 transcript variant X17 XM_017021831.3:c.185-48583= XM_017021831.3:c.185-48583G>A XM_017021831.3:c.185-48583G>T
RGS6 transcript variant X18 XM_017021832.3:c.185-48583= XM_017021832.3:c.185-48583G>A XM_017021832.3:c.185-48583G>T
RGS6 transcript variant X21 XM_017021833.3:c.185-48583= XM_017021833.3:c.185-48583G>A XM_017021833.3:c.185-48583G>T
RGS6 transcript variant X1 XM_024449759.2:c.185-48583= XM_024449759.2:c.185-48583G>A XM_024449759.2:c.185-48583G>T
RGS6 transcript variant X3 XM_024449760.2:c.185-48583= XM_024449760.2:c.185-48583G>A XM_024449760.2:c.185-48583G>T
RGS6 transcript variant X2 XM_024449761.2:c.185-48583= XM_024449761.2:c.185-48583G>A XM_024449761.2:c.185-48583G>T
RGS6 transcript variant X19 XM_024449776.2:c.185-48583= XM_024449776.2:c.185-48583G>A XM_024449776.2:c.185-48583G>T
RGS6 transcript variant X10 XM_047431987.1:c.185-48583= XM_047431987.1:c.185-48583G>A XM_047431987.1:c.185-48583G>T
RGS6 transcript variant X20 XM_047431990.1:c.185-48583= XM_047431990.1:c.185-48583G>A XM_047431990.1:c.185-48583G>T
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#.

36 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss338440408 May 09, 2011 (134)
2 ILLUMINA ss535900796 Sep 08, 2015 (146)
3 EVA-GONL ss991299498 Aug 21, 2014 (142)
4 JMKIDD_LAB ss1079768280 Aug 21, 2014 (142)
5 1000GENOMES ss1351579397 Aug 21, 2014 (142)
6 EVA_GENOME_DK ss1577343487 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1632046962 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1675040995 Apr 01, 2015 (144)
9 EVA_DECODE ss1695303410 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1934670024 Feb 12, 2016 (147)
11 JJLAB ss2028117119 Sep 14, 2016 (149)
12 USC_VALOUEV ss2156492142 Dec 20, 2016 (150)
13 HUMAN_LONGEVITY ss2203177064 Dec 20, 2016 (150)
14 SWEGEN ss3012436283 Nov 08, 2017 (151)
15 ILLUMINA ss3627252506 Oct 12, 2018 (152)
16 EGCUT_WGS ss3679693344 Jul 13, 2019 (153)
17 EVA_DECODE ss3696963196 Jul 13, 2019 (153)
18 ACPOP ss3740509760 Jul 13, 2019 (153)
19 EVA ss3752499941 Jul 13, 2019 (153)
20 KHV_HUMAN_GENOMES ss3817827236 Jul 13, 2019 (153)
21 SGDP_PRJ ss3881807321 Apr 27, 2020 (154)
22 KRGDB ss3930855905 Apr 27, 2020 (154)
23 GNOMAD ss4280537851 Apr 27, 2021 (155)
24 TOPMED ss4975653495 Apr 27, 2021 (155)
25 TOMMO_GENOMICS ss5213881502 Apr 27, 2021 (155)
26 1000G_HIGH_COVERAGE ss5296726854 Oct 17, 2022 (156)
27 EVA ss5416176524 Oct 17, 2022 (156)
28 HUGCELL_USP ss5490721449 Oct 17, 2022 (156)
29 1000G_HIGH_COVERAGE ss5597261230 Oct 17, 2022 (156)
30 SANFORD_IMAGENETICS ss5656506204 Oct 17, 2022 (156)
31 TOMMO_GENOMICS ss5766871937 Oct 17, 2022 (156)
32 TOMMO_GENOMICS ss5766871938 Oct 17, 2022 (156)
33 EVA ss5841308637 Oct 17, 2022 (156)
34 EVA ss5851095207 Oct 17, 2022 (156)
35 EVA ss5901921189 Oct 17, 2022 (156)
36 EVA ss5947952943 Oct 17, 2022 (156)
37 1000Genomes NC_000014.8 - 72872653 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000014.9 - 72405945 Oct 17, 2022 (156)
39 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 72872653 Oct 12, 2018 (152)
40 Genetic variation in the Estonian population NC_000014.8 - 72872653 Oct 12, 2018 (152)
41 The Danish reference pan genome NC_000014.8 - 72872653 Apr 27, 2020 (154)
42 gnomAD - Genomes NC_000014.9 - 72405945 Apr 27, 2021 (155)
43 Genome of the Netherlands Release 5 NC_000014.8 - 72872653 Apr 27, 2020 (154)
44 KOREAN population from KRGDB NC_000014.8 - 72872653 Apr 27, 2020 (154)
45 Northern Sweden NC_000014.8 - 72872653 Jul 13, 2019 (153)
46 Qatari NC_000014.8 - 72872653 Apr 27, 2020 (154)
47 SGDP_PRJ NC_000014.8 - 72872653 Apr 27, 2020 (154)
48 Siberian NC_000014.8 - 72872653 Apr 27, 2020 (154)
49 8.3KJPN NC_000014.8 - 72872653 Apr 27, 2021 (155)
50 14KJPN

Submission ignored due to conflicting rows:
Row 100709041 (NC_000014.9:72405944:G:A 2/28258)
Row 100709042 (NC_000014.9:72405944:G:T 1/28258)

- Oct 17, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 100709041 (NC_000014.9:72405944:G:A 2/28258)
Row 100709042 (NC_000014.9:72405944:G:T 1/28258)

- Oct 17, 2022 (156)
52 TopMed NC_000014.9 - 72405945 Apr 27, 2021 (155)
53 UK 10K study - Twins NC_000014.8 - 72872653 Oct 12, 2018 (152)
54 ALFA NC_000014.9 - 72405945 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1695303410 NC_000014.7:71942405:G:A NC_000014.9:72405944:G:A (self)
64581902, 35886791, 25431592, 3663270, 16026601, 38033299, 13794625, 16711954, 33824301, 9008496, 71850809, 35886791, ss338440408, ss535900796, ss991299498, ss1079768280, ss1351579397, ss1577343487, ss1632046962, ss1675040995, ss1934670024, ss2028117119, ss2156492142, ss3012436283, ss3627252506, ss3679693344, ss3740509760, ss3752499941, ss3881807321, ss3930855905, ss5213881502, ss5416176524, ss5656506204, ss5841308637, ss5947952943 NC_000014.8:72872652:G:A NC_000014.9:72405944:G:A (self)
84787165, 455350227, 191199154, 166558549, ss2203177064, ss3696963196, ss3817827236, ss4280537851, ss4975653495, ss5296726854, ss5490721449, ss5597261230, ss5766871937, ss5851095207, ss5901921189 NC_000014.9:72405944:G:A NC_000014.9:72405944:G:A (self)
ss5766871938 NC_000014.9:72405944:G:T NC_000014.9:72405944:G:T
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 rs148306358

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