rs17236010

Homo sapiens
C>T
RYR3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0320 (9593/29936,GnomAD)
T=0289 (8442/29118,TOPMED)
T=0268 (1340/5008,1000G)
T=0347 (1337/3854,ALSPAC)
T=0353 (1308/3708,TWINSUK)
chr15:33396486 (GRCh38.p7) (15q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
62 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.33396486C>T
GRCh37.p13 chr 15NC_000015.9:g.33688687C>T

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 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 X3XM_017022470.1:c.N/AGenic Upstream Transcript 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
1000GenomesAfricanSub1322C=0.756T=0.244
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.845T=0.155
1000GenomesEuropeSub1006C=0.628T=0.372
1000GenomesGlobalStudy-wide5008C=0.732T=0.268
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.653T=0.347
The Genome Aggregation DatabaseAfricanSub8708C=0.767T=0.233
The Genome Aggregation DatabaseAmericanSub836C=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1618C=0.888T=0.112
The Genome Aggregation DatabaseEuropeSub18472C=0.617T=0.382
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.679T=0.320
The Genome Aggregation DatabaseOtherSub302C=0.670T=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.710T=0.289
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.647T=0.353
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs172360100.000961alcohol dependence21314694

eQTL of rs17236010 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 rs17236010 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 )
chr153365002033650383E068-38304
chr153365058033650835E068-37852
chr153366340133663622E068-25065
chr153371647733716527E06827790
chr153366340133663622E069-25065
chr153371713333717223E06928446
chr153365002033650383E070-38304
chr153365058033650835E070-37852
chr153365087533651064E070-37623
chr153365118833651265E070-37422
chr153366340133663622E070-25065
chr153366635033667142E070-21545
chr153366717833667306E070-21381
chr153368580933686354E070-2333
chr153368638133686475E070-2212
chr153368652633686619E070-2068
chr153368669633686888E070-1799
chr153368708233687197E070-1490
chr153368938833689481E070701
chr153368953033689580E070843
chr153368970933689807E0701022
chr153369059033690737E0701903
chr153369084433690922E0702157
chr153371189733712482E07023210
chr153372181933721879E07033132
chr153365002033650383E072-38304
chr153365058033650835E072-37852
chr153365002033650383E074-38304
chr153365058033650835E074-37852
chr153365087533651064E074-37623
chr153365118833651265E074-37422
chr153365137733651440E074-37247
chr153368580933686354E074-2333
chr153371713333717223E07428446
chr153371732533717681E07428638
chr153366281633663095E081-25592
chr153366340133663622E081-25065
chr153366609833666305E081-22382
chr153366635033667142E081-21545
chr153366717833667306E081-21381
chr153368638133686475E081-2212
chr153368652633686619E081-2068
chr153368669633686888E081-1799
chr153369059033690737E0811903
chr153369084433690922E0812157
chr153369107333691123E0812386
chr153369456833695170E0815881
chr153371154433711697E08122857
chr153371189733712482E08123210
chr153371271633712968E08124029
chr153371304333713093E08124356
chr153366281633663095E082-25592
chr153366340133663622E082-25065
chr153366590133665951E082-22736
chr153366609833666305E082-22382
chr153368938833689481E082701
chr153368953033689580E082843
chr153368970933689807E0821022
chr153369059033690737E0821903
chr153369084433690922E0822157
chr153371074033710790E08222053
chr153371271633712968E08224029