rs2803953

Homo sapiens
C>A / C>T
RGS6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0080 (2419/29952,GnomAD)
T=0097 (2836/29118,TOPMED)
T=0125 (628/5008,1000G)
T=0053 (205/3854,ALSPAC)
T=0053 (197/3708,TWINSUK)
chr14:72604795 (GRCh38.p7) (14q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.72604795C>A
GRCh38.p7 chr 14NC_000014.9:g.72604795C>T
GRCh37.p13 chr 14NC_000014.8:g.73071503C>A
GRCh37.p13 chr 14NC_000014.8:g.73071503C>T

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

Molecule type Change Amino acid[Codon] SO Term
RGS6 transcript variant 1NM_001204416.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 3NM_001204417.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 4NM_001204418.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 5NM_001204419.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 6NM_001204420.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 7NM_001204421.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 8NM_001204422.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 9NM_001204423.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 10NM_001204424.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 2NM_004296.6:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant 11NR_135235.1:n.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X10XM_017021825.1:c.N/AIntron Variant
RGS6 transcript variant X7XM_011537393.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X12XM_011537397.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X26XM_011537407.2:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X1XM_017021818.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X5XM_017021819.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X3XM_017021820.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X5XM_017021821.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X7XM_017021822.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X8XM_017021823.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X16XM_017021824.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X11XM_017021826.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X12XM_017021827.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X14XM_017021828.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X30XM_017021829.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X16XM_017021830.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X18XM_017021831.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X19XM_017021832.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X20XM_017021833.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X39XM_017021834.1:c.N/AGenic Downstream Transcript Variant
RGS6 transcript variant X17XR_001750613.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.901T=0.099
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.839T=0.161
1000GenomesEuropeSub1006C=0.940T=0.060
1000GenomesGlobalStudy-wide5008C=0.875T=0.125
1000GenomesSouth AsianSub978C=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.947T=0.053
The Genome Aggregation DatabaseAfricanSub8712C=0.903T=0.097
The Genome Aggregation DatabaseAmericanSub838C=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1618C=0.822T=0.178
The Genome Aggregation DatabaseEuropeSub18482C=0.940T=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.919T=0.080
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.902T=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.947T=0.053
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs28039530.0002alcohol dependence(early age of onset)20201924
rs28039530.00089alcohol dependence20201924

eQTL of rs2803953 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2803953 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr143996020239960899E068-29063
chr143996092639961020E068-28942
chr143996108539961212E068-28750
chr143996142239961888E068-28074
chr143995763139957797E070-32165
chr143995779839958169E070-31793
chr143995839339958447E070-31515
chr143995846339958513E070-31449
chr143995863239958697E070-31265
chr143995876239958816E070-31146
chr143996020239960899E070-29063
chr143996092639961020E070-28942
chr143996108539961212E070-28750
chr143995779839958169E071-31793
chr143996020239960899E071-29063
chr143996092639961020E071-28942
chr143996108539961212E071-28750
chr143996020239960899E073-29063
chr143996092639961020E073-28942
chr143995763139957797E082-32165
chr143995779839958169E082-31793
chr143995839339958447E082-31515