rs10495392

Homo sapiens
C>T
RYR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0118 (3546/29944,GnomAD)
C==0141 (4130/29116,TOPMED)
C==0111 (558/5008,1000G)
C==0113 (435/3854,ALSPAC)
C==0117 (433/3708,TWINSUK)
chr1:237259689 (GRCh38.p7) (1q43)
ND
GWASdb2
3   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.237259689C>T
GRCh37.p13 chr 1NC_000001.10:g.237422989C>T
RYR2 RefSeqGeneNG_008799.2:g.222288C>T

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 X10XM_006711809.3: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 X9XR_949152.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.191T=0.809
1000GenomesAmericanSub694C=0.100T=0.900
1000GenomesEast AsianSub1008C=0.070T=0.930
1000GenomesEuropeSub1006C=0.119T=0.881
1000GenomesGlobalStudy-wide5008C=0.111T=0.889
1000GenomesSouth AsianSub978C=0.050T=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.113T=0.887
The Genome Aggregation DatabaseAfricanSub8720C=0.167T=0.833
The Genome Aggregation DatabaseAmericanSub836C=0.120T=0.880
The Genome Aggregation DatabaseEast AsianSub1614C=0.069T=0.931
The Genome Aggregation DatabaseEuropeSub18472C=0.099T=0.900
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.118T=0.881
The Genome Aggregation DatabaseOtherSub302C=0.140T=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.141T=0.858
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.117T=0.883
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
19804850A common variation in EDAR is a genetic determinant of shovel-shaped incisors.Kimura RAm J Hum Genet
18817904Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.Yamaguchi-Kabata YAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs104953924.33E-05alcohol and nictotine co-dependence20158304

eQTL of rs10495392 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 rs10495392 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 )
chr1237383151237383277E067-39712
chr1237383438237384003E067-38986
chr1237445409237445961E06722420
chr1237383151237383277E068-39712
chr1237383438237384003E068-38986
chr1237451297237451645E06828308
chr1237451747237451798E06828758
chr1237383438237384003E069-38986
chr1237445409237445961E06922420
chr1237446186237446246E06923197
chr1237446655237446705E06923666
chr1237383151237383277E070-39712
chr1237383438237384003E070-38986
chr1237383151237383277E071-39712
chr1237451297237451645E07128308
chr1237383151237383277E072-39712
chr1237383438237384003E072-38986
chr1237383151237383277E074-39712
chr1237445409237445961E07422420
chr1237446186237446246E07423197
chr1237451297237451645E07428308
chr1237383151237383277E081-39712
chr1237383438237384003E081-38986
chr1237385280237385368E081-37621
chr1237383151237383277E082-39712
chr1237383438237384003E082-38986
chr1237389531237390034E082-32955
chr1237418071237418225E082-4764
chr1237445409237445961E08222420