rs10504567

Homo sapiens
G>C
JPH1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0070 (2120/29952,GnomAD)
C=0104 (3048/29118,TOPMED)
C=0112 (562/5008,1000G)
C=0006 (25/3854,ALSPAC)
C=0006 (22/3708,TWINSUK)
chr8:74264853 (GRCh38.p7) (8q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74264853G>C
GRCh37.p13 chr 8NC_000008.10:g.75177088G>C
JPH1 RefSeqGeneNG_046331.1:g.61475C>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
1000GenomesAfricanSub1322G=0.710C=0.290
1000GenomesAmericanSub694G=0.940C=0.060
1000GenomesEast AsianSub1008G=0.924C=0.076
1000GenomesEuropeSub1006G=0.989C=0.011
1000GenomesGlobalStudy-wide5008G=0.888C=0.112
1000GenomesSouth AsianSub978G=0.950C=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.994C=0.006
The Genome Aggregation DatabaseAfricanSub8712G=0.796C=0.204
The Genome Aggregation DatabaseAmericanSub838G=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1618G=0.907C=0.093
The Genome Aggregation DatabaseEuropeSub18482G=0.991C=0.008
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.929C=0.070
The Genome Aggregation DatabaseOtherSub302G=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.895C=0.104
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.994C=0.006
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105045673.89E-12alcohol consumptionpha001400

eQTL of rs10504567 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 rs10504567 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 )
chr87512932675129419E067-47669
chr87512943375129506E067-47582
chr87512961375130510E067-46578
chr87515622175156340E067-20748
chr87515638775156441E067-20647
chr87515645875156577E067-20511
chr87515658675156949E067-20139
chr87515707775157127E067-19961
chr87515719175157271E067-19817
chr87518780275188096E06810714
chr87519571575196518E06818627
chr87519657675196795E06819488
chr87520620575206289E06829117
chr87520629375207010E06829205
chr87521434075214424E06837252
chr87521444575214499E06837357
chr87521492275215012E06837834
chr87512961375130510E069-46578
chr87515707775157127E069-19961
chr87515719175157271E069-19817
chr87516075075161462E069-15626
chr87516165775161898E069-15190
chr87512932675129419E071-47669
chr87512943375129506E071-47582
chr87512961375130510E071-46578
chr87515638775156441E073-20647
chr87515645875156577E073-20511
chr87515658675156949E073-20139
chr87515707775157127E073-19961
chr87515719175157271E073-19817
chr87516291575163766E073-13322
chr87521492275215012E07337834
chr87521517375215227E07338085
chr87521534375215412E07338255
chr87521545775215497E07338369
chr87521556375215728E07338475
chr87512932675129419E081-47669
chr87512943375129506E081-47582
chr87512961375130510E081-46578
chr87513071475130804E081-46284
chr87513098575131029E081-46059
chr87514941075149558E081-27530
chr87514960475149753E081-27335
chr87515638775156441E081-20647
chr87515645875156577E081-20511
chr87515658675156949E081-20139
chr87518704375187281E0819955
chr87518729075187344E08110202
chr87518740675187786E08110318
chr87519526575195462E08118177
chr87519571575196518E08118627
chr87519657675196795E08119488
chr87512961375130510E082-46578
chr87516068475160734E082-16354
chr87516075075161462E082-15626
chr87516165775161898E082-15190
chr87519526575195462E08218177
chr87519571575196518E08218627
chr87519657675196795E08219488