rs16973062

Homo sapiens
T>C
RYR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0123 (3687/29984,GnomAD)
C=0128 (3749/29118,TOPMED)
C=0227 (1135/5008,1000G)
C=0039 (149/3854,ALSPAC)
C=0038 (142/3708,TWINSUK)
chr15:33600096 (GRCh38.p7) (15q14)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.33600096T>C
GRCh37.p13 chr 15NC_000015.9:g.33892297T>C

Gene: RYR3, ryanodine receptor 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RYR3 transcript variant 1NM_001036.4:c.N/AIntron Variant
RYR3 transcript variant 2NM_001243996.2:c.N/AIntron Variant
RYR3 transcript variant X9XM_011521880.2:c.N/AIntron Variant
RYR3 transcript variant X1XM_017022468.1:c.N/AIntron Variant
RYR3 transcript variant X2XM_017022469.1:c.N/AIntron Variant
RYR3 transcript variant X3XM_017022470.1:c.N/AIntron Variant
RYR3 transcript variant X4XM_017022471.1:c.N/AIntron Variant
RYR3 transcript variant X5XM_017022472.1:c.N/AIntron Variant
RYR3 transcript variant X7XM_017022473.1:c.N/AIntron Variant
RYR3 transcript variant X8XM_017022474.1:c.N/AIntron Variant
RYR3 transcript variant X10XM_017022475.1:c.N/AIntron Variant
RYR3 transcript variant X11XM_017022476.1:c.N/AIntron Variant
RYR3 transcript variant X13XM_017022477.1:c.N/AIntron Variant
RYR3 transcript variant X12XR_001751369.1:n.N/AIntron Variant
RYR3 transcript variant X14XR_001751370.1:n.N/AIntron Variant
RYR3 transcript variant X14XR_001751371.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.813C=0.187
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.414C=0.586
1000GenomesEuropeSub1006T=0.951C=0.049
1000GenomesGlobalStudy-wide5008T=0.773C=0.227
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.961C=0.039
The Genome Aggregation DatabaseAfricanSub8722T=0.815C=0.185
The Genome Aggregation DatabaseAmericanSub838T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1622T=0.434C=0.566
The Genome Aggregation DatabaseEuropeSub18500T=0.943C=0.056
The Genome Aggregation DatabaseGlobalStudy-wide29984T=0.877C=0.123
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.871C=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.962C=0.038
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
rs169730620.000462alcohol dependence20201924

eQTL of rs16973062 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 rs16973062 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 )
chr153387244833872691E067-19606
chr153387269633873206E067-19091
chr153387324433873789E067-18508
chr153384324433843331E068-48966
chr153384402133844061E068-48236
chr153384420633844598E068-47699
chr153384467933844729E068-47568
chr153384482933845087E068-47210
chr153384557933845662E068-46635
chr153385124733851441E068-40856
chr153385150033851716E068-40581
chr153387269633873206E068-19091
chr153384402133844061E070-48236
chr153384420633844598E070-47699
chr153384467933844729E070-47568
chr153384482933845087E070-47210
chr153384557933845662E070-46635
chr153393179733931889E07039500
chr153393290433932954E07040607
chr153393329633933465E07040999
chr153393179733931889E08139500