rs11158954

Homo sapiens
C>T
RGS6 : Intron Variant
LOC105370559 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0179 (5227/29118,TOPMED)
T=0198 (990/5008,1000G)
T=0242 (931/3854,ALSPAC)
T=0242 (896/3708,TWINSUK)
chr14:72415689 (GRCh38.p7) (14q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.72415689C>T
GRCh37.p13 chr 14NC_000014.8:g.72882397C>T
RGS6 RefSeqGeneNG_029236.1:g.488581C>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/AIntron Variant
RGS6 transcript variant 3NM_001204417.2:c.N/AIntron Variant
RGS6 transcript variant 4NM_001204418.2:c.N/AIntron Variant
RGS6 transcript variant 5NM_001204419.2:c.N/AIntron Variant
RGS6 transcript variant 6NM_001204420.2:c.N/AIntron Variant
RGS6 transcript variant 7NM_001204421.2:c.N/AIntron Variant
RGS6 transcript variant 8NM_001204422.2:c.N/AIntron Variant
RGS6 transcript variant 9NM_001204423.1:c.N/AIntron Variant
RGS6 transcript variant 10NM_001204424.1:c.N/AIntron Variant
RGS6 transcript variant 2NM_004296.6:c.N/AIntron Variant
RGS6 transcript variant 11NR_135235.1:n.N/AIntron Variant
RGS6 transcript variant X1XM_017021818.1:c.N/AIntron Variant
RGS6 transcript variant X5XM_017021819.1:c.N/AIntron Variant
RGS6 transcript variant X3XM_017021820.1:c.N/AIntron Variant
RGS6 transcript variant X5XM_017021821.1:c.N/AIntron Variant
RGS6 transcript variant X7XM_017021822.1:c.N/AIntron Variant
RGS6 transcript variant X8XM_017021823.1:c.N/AIntron Variant
RGS6 transcript variant X16XM_017021824.1:c.N/AIntron Variant
RGS6 transcript variant X10XM_017021825.1:c.N/AIntron Variant
RGS6 transcript variant X11XM_017021826.1:c.N/AIntron Variant
RGS6 transcript variant X12XM_017021827.1:c.N/AIntron Variant
RGS6 transcript variant X14XM_017021828.1:c.N/AIntron Variant
RGS6 transcript variant X30XM_017021829.1:c.N/AIntron Variant
RGS6 transcript variant X16XM_017021830.1:c.N/AIntron Variant
RGS6 transcript variant X18XM_017021831.1:c.N/AIntron Variant
RGS6 transcript variant X19XM_017021832.1:c.N/AIntron Variant
RGS6 transcript variant X20XM_017021833.1:c.N/AIntron Variant
RGS6 transcript variant X7XM_011537393.2:c.N/AGenic Upstream Transcript Variant
RGS6 transcript variant X12XM_011537397.1:c.N/AGenic Upstream Transcript Variant
RGS6 transcript variant X26XM_011537407.2:c.N/AGenic Upstream Transcript Variant
RGS6 transcript variant X39XM_017021834.1:c.N/AGenic Upstream Transcript Variant
RGS6 transcript variant X17XR_001750613.1:n.N/AIntron Variant

Gene: LOC105370559, uncharacterized LOC105370559(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370559 transcript variant X1XR_001750997.1:n.N/AIntron Variant
LOC105370559 transcript variant X2XR_944018.2:n.N/AIntron Variant
LOC105370559 transcript variant X3XR_944019.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.921T=0.079
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.799T=0.201
1000GenomesEuropeSub1006C=0.750T=0.250
1000GenomesGlobalStudy-wide5008C=0.802T=0.198
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.758T=0.242
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.820T=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.758T=0.242
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
rs111589540.000935alcohol dependence24277619

eQTL of rs11158954 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 rs11158954 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 )
chr147291120472911249E06828807
chr147291127572911405E06828878
chr147291144972911505E06829052
chr147291152172911696E06829124
chr147291723972917692E06834842
chr147291723972917692E06934842
chr147291774072918642E06935343
chr147284916172849392E070-33005
chr147284949972849579E070-32818
chr147285015172850201E070-32196
chr147285027672850349E070-32048
chr147288559572885787E0703198
chr147288604472886136E0703647
chr147288617172886364E0703774
chr147291629672916336E07033899
chr147291651972916640E07034122
chr147291723972917692E07034842
chr147291868872919114E07036291
chr147291917272919363E07036775
chr147290858772908637E07426190
chr147290880672908856E07426409
chr147291723972917692E07434842
chr147286740072867598E081-14799
chr147286767272867807E081-14590
chr147288368672883893E0811289
chr147288401772884120E0811620
chr147288525872885308E0812861
chr147288559572885787E0813198
chr147288604472886136E0813647
chr147288617172886364E0813774
chr147288655972886798E0814162
chr147288682772886930E0814430
chr147288707972887129E0814682
chr147288741872888056E0815021
chr147291629672916336E08133899
chr147291723972917692E08134842
chr147291774072918642E08135343
chr147291868872919114E08136291
chr147285753272857582E082-24815
chr147285771272858085E082-24312
chr147285814972858199E082-24198
chr147288368672883893E0821289
chr147288401772884120E0821620
chr147288426372884692E0821866
chr147288525872885308E0822861
chr147288559572885787E0823198
chr147288604472886136E0823647
chr147288617172886364E0823774
chr147291723972917692E08234842
chr147291774072918642E08235343
chr147291947572919541E08237078