rs12086317

Homo sapiens
A>G
RGS7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0138 (4158/29952,GnomAD)
G=0154 (4496/29116,TOPMED)
G=0122 (613/5008,1000G)
G=0144 (554/3854,ALSPAC)
G=0136 (505/3708,TWINSUK)
chr1:241100916 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.241100916A>G
GRCh37.p13 chr 1NC_000001.10:g.241264216A>G

Gene: RGS7, regulator of G-protein signaling 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RGS7 transcript variant 2NM_001282773.1:c.N/AIntron Variant
RGS7 transcript variant 3NM_001282775.1:c.N/AIntron Variant
RGS7 transcript variant 4NM_001282778.1:c.N/AIntron Variant
RGS7 transcript variant 1NM_002924.5:c.N/AIntron Variant
RGS7 transcript variant X1XM_005273218.3:c.N/AIntron Variant
RGS7 transcript variant X4XM_006711800.3:c.N/AIntron Variant
RGS7 transcript variant X5XM_011544246.2:c.N/AIntron Variant
RGS7 transcript variant X6XM_011544247.2:c.N/AIntron Variant
RGS7 transcript variant X2XM_017002001.1:c.N/AIntron Variant
RGS7 transcript variant X3XM_017002002.1:c.N/AIntron Variant
RGS7 transcript variant X7XM_017002003.1:c.N/AIntron Variant
RGS7 transcript variant X8XM_017002004.1:c.N/AIntron Variant
RGS7 transcript variant X9XM_017002005.1:c.N/AIntron Variant
RGS7 transcript variant X10XM_017002006.1:c.N/AIntron Variant
RGS7 transcript variant X11XM_017002007.1:c.N/AIntron Variant
RGS7 transcript variant X12XM_017002008.1:c.N/AIntron Variant
RGS7 transcript variant X10XM_017002009.1:c.N/AIntron Variant
RGS7 transcript variant X14XM_017002010.1:c.N/AIntron Variant
RGS7 transcript variant X15XM_017002011.1:c.N/AGenic Upstream Transcript Variant
RGS7 transcript variant X16XM_017002012.1:c.N/AGenic Upstream Transcript Variant
RGS7 transcript variant X13XM_017002013.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.823G=0.177
1000GenomesAmericanSub694A=0.840G=0.160
1000GenomesEast AsianSub1008A=0.978G=0.022
1000GenomesEuropeSub1006A=0.850G=0.150
1000GenomesGlobalStudy-wide5008A=0.878G=0.122
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.856G=0.144
The Genome Aggregation DatabaseAfricanSub8708A=0.809G=0.191
The Genome Aggregation DatabaseAmericanSub836A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1622A=0.993G=0.007
The Genome Aggregation DatabaseEuropeSub18484A=0.874G=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29952A=0.861G=0.138
The Genome Aggregation DatabaseOtherSub302A=0.870G=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.845G=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.864G=0.136
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs120863170.000853alcohol dependence24277619

eQTL of rs12086317 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 rs12086317 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 )
chr1241237918241238117E068-26099
chr1241237918241238117E069-26099
chr1241219505241219675E070-44541
chr1241219899241219947E070-44269
chr1241237918241238117E071-26099
chr1241237918241238117E073-26099
chr1241242355241242698E073-21518
chr1241237918241238117E074-26099
chr1241307188241307332E08142972