rs12737847

Homo sapiens
T>C
RYR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0088 (2640/29968,GnomAD)
C=0109 (3194/29116,TOPMED)
C=0090 (450/5008,1000G)
C=0045 (173/3854,ALSPAC)
C=0049 (182/3708,TWINSUK)
chr1:237782570 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.237782570T>C
GRCh37.p13 chr 1NC_000001.10:g.237945870T>C
RYR2 RefSeqGeneNG_008799.2:g.745169T>C

Gene: RYR2, ryanodine receptor 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RYR2 transcriptNM_001035.2:c.N/AIntron Variant
RYR2 transcript variant X1XM_006711802.3:c.N/AIntron Variant
RYR2 transcript variant X2XM_006711803.3:c.N/AIntron Variant
RYR2 transcript variant X4XM_006711804.3:c.N/AIntron Variant
RYR2 transcript variant X5XM_006711805.3:c.N/AIntron Variant
RYR2 transcript variant X6XM_006711806.3:c.N/AIntron Variant
RYR2 transcript variant X7XM_006711807.3:c.N/AIntron Variant
RYR2 transcript variant X8XM_006711808.3:c.N/AIntron Variant
RYR2 transcript variant X11XM_006711810.3:c.N/AIntron Variant
RYR2 transcript variant X3XM_017002028.1:c.N/AIntron Variant
RYR2 transcript variant X10XM_006711809.3:c.N/AGenic Downstream Transcript Variant
RYR2 transcript variant X9XR_949152.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.825C=0.175
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=0.920C=0.080
1000GenomesEuropeSub1006T=0.958C=0.042
1000GenomesGlobalStudy-wide5008T=0.910C=0.090
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955C=0.045
The Genome Aggregation DatabaseAfricanSub8716T=0.827C=0.173
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1620T=0.944C=0.056
The Genome Aggregation DatabaseEuropeSub18492T=0.945C=0.054
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.911C=0.088
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.890C=0.109
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.951C=0.049
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
rs127378470.000439alcohol dependence20201924

eQTL of rs12737847 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 rs12737847 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.