rs17337083

Homo sapiens
T>C
JPH1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0057 (1713/29984,GnomAD)
C=0052 (1533/29118,TOPMED)
C=0046 (232/5008,1000G)
C=0086 (332/3854,ALSPAC)
C=0074 (274/3708,TWINSUK)
chr8:74242632 (GRCh38.p7) (8q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
49 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74242632T>C
GRCh37.p13 chr 8NC_000008.10:g.75154867T>C
JPH1 RefSeqGeneNG_046331.1:g.83696A>G

Gene: JPH1, junctophilin 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
JPH1 transcript variant 2NM_001317830.1:c.N/AIntron Variant
JPH1 transcript variant 1NM_020647.3:c.N/AIntron Variant
JPH1 transcript variant X2XM_005251274.3:c.N/AIntron Variant
JPH1 transcript variant X1XM_005251275.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.995C=0.005
1000GenomesAmericanSub694T=0.910C=0.090
1000GenomesEast AsianSub1008T=0.935C=0.065
1000GenomesEuropeSub1006T=0.926C=0.074
1000GenomesGlobalStudy-wide5008T=0.954C=0.046
1000GenomesSouth AsianSub978T=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.914C=0.086
The Genome Aggregation DatabaseAfricanSub8734T=0.982C=0.018
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1618T=0.926C=0.074
The Genome Aggregation DatabaseEuropeSub18492T=0.927C=0.072
The Genome Aggregation DatabaseGlobalStudy-wide29984T=0.942C=0.057
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.947C=0.052
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.926C=0.074
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
rs173370830.000527alcohol dependence21314694

eQTL of rs17337083 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 rs17337083 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 )
chr87512932675129419E067-25448
chr87512943375129506E067-25361
chr87512961375130510E067-24357
chr87515622175156340E0671354
chr87515638775156441E0671520
chr87515645875156577E0671591
chr87515658675156949E0671719
chr87515707775157127E0672210
chr87515719175157271E0672324
chr87518780275188096E06832935
chr87519571575196518E06840848
chr87519657675196795E06841709
chr87512961375130510E069-24357
chr87515707775157127E0692210
chr87515719175157271E0692324
chr87516075075161462E0695883
chr87516165775161898E0696790
chr87512932675129419E071-25448
chr87512943375129506E071-25361
chr87512961375130510E071-24357
chr87515638775156441E0731520
chr87515645875156577E0731591
chr87515658675156949E0731719
chr87515707775157127E0732210
chr87515719175157271E0732324
chr87516291575163766E0738048
chr87512932675129419E081-25448
chr87512943375129506E081-25361
chr87512961375130510E081-24357
chr87513071475130804E081-24063
chr87513098575131029E081-23838
chr87514941075149558E081-5309
chr87514960475149753E081-5114
chr87515638775156441E0811520
chr87515645875156577E0811591
chr87515658675156949E0811719
chr87518704375187281E08132176
chr87518729075187344E08132423
chr87518740675187786E08132539
chr87519526575195462E08140398
chr87519571575196518E08140848
chr87519657675196795E08141709
chr87512961375130510E082-24357
chr87516068475160734E0825817
chr87516075075161462E0825883
chr87516165775161898E0826790
chr87519526575195462E08240398
chr87519571575196518E08240848
chr87519657675196795E08241709