rs919597

Homo sapiens
C>T
MYO16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0069 (2073/29984,GnomAD)
T=0093 (2729/29118,TOPMED)
T=0056 (282/5008,1000G)
T=0077 (296/3854,ALSPAC)
T=0078 (290/3708,TWINSUK)
chr13:109133497 (GRCh38.p7) (13q33.3)
AD
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.109133497C>T
GRCh37.p13 chr 13NC_000013.10:g.109785845C>T

Gene: MYO16, myosin XVI(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYO16 transcript variant 1NM_001198950.1:c.N/AIntron Variant
MYO16 transcript variant 2NM_015011.1:c.N/AIntron Variant
MYO16 transcript variant X1XM_011521062.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.893T=0.107
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.941T=0.059
1000GenomesGlobalStudy-wide5008C=0.944T=0.056
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.923T=0.077
The Genome Aggregation DatabaseAfricanSub8720C=0.887T=0.113
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18502C=0.944T=0.055
The Genome Aggregation DatabaseGlobalStudy-wide29984C=0.930T=0.069
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.906T=0.093
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.922T=0.078
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
rs9195970.000456alcohol dependence20201924

eQTL of rs919597 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 rs919597 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 )
chr13109833188109833816E06747343
chr13109811953109812183E06926108
chr13109812185109812287E06926340
chr13109833188109833816E06947343
chr13109742961109743033E070-42812
chr13109743217109743276E070-42569
chr13109743292109743434E070-42411
chr13109799507109800068E07013662
chr13109813678109813910E07027833
chr13109823407109823501E07037562
chr13109824263109824313E07038418
chr13109824416109824486E07038571
chr13109824583109824673E07038738
chr13109814359109815457E07128514
chr13109798781109798933E07212936
chr13109799040109799090E07213195
chr13109799380109799476E07213535
chr13109811953109812183E07226108
chr13109812185109812287E07226340
chr13109809280109809586E07323435
chr13109809639109810284E07323794
chr13109811953109812183E07426108
chr13109812185109812287E07426340
chr13109812439109812558E07426594
chr13109812736109813551E07426891
chr13109833188109833816E07447343
chr13109758212109758315E081-27530
chr13109758386109758533E081-27312
chr13109758696109758746E081-27099
chr13109758868109759232E081-26613
chr13109777806109777846E081-7999
chr13109778303109778483E081-7362
chr13109778611109778832E081-7013
chr13109780387109781101E081-4744
chr13109806169109806281E08120324
chr13109806293109806449E08120448
chr13109806484109806901E08120639
chr13109806916109807253E08121071
chr13109807278109808314E08121433
chr13109808333109809216E08122488
chr13109809280109809586E08123435
chr13109809639109810284E08123794
chr13109824263109824313E08138418
chr13109780283109780350E082-5495
chr13109799380109799476E08213535
chr13109807278109808314E08221433
chr13109808333109809216E08222488









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr13109792799109793052E0686954
chr13109793124109793268E0687279
chr13109793338109793809E0697493
chr13109792799109793052E0706954
chr13109793124109793268E0707279
chr13109793338109793809E0707493
chr13109792799109793052E0826954
chr13109793124109793268E0827279
chr13109793338109793809E0827493