rs9394619

Homo sapiens
T>C
KIF6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0119 (3581/29928,GnomAD)
C=0142 (4137/29118,TOPMED)
C=0165 (824/5008,1000G)
C=0033 (127/3854,ALSPAC)
C=0038 (140/3708,TWINSUK)
chr6:39606601 (GRCh38.p7) (6p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.39606601T>C
GRCh37.p13 chr 6NC_000006.11:g.39574377T>C

Gene: KIF6, kinesin family member 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KIF6 transcript variant 2NM_001289020.1:c.N/AIntron Variant
KIF6 transcript variant 3NM_001289021.1:c.N/AIntron Variant
KIF6 transcript variant 1NM_145027.4:c.N/AIntron Variant
KIF6 transcript variant 4NM_001289024.1:c.N/AGenic Upstream Transcript Variant
KIF6 transcript variant X1XM_005248904.4:c.N/AIntron Variant
KIF6 transcript variant X2XM_011514357.2:c.N/AIntron Variant
KIF6 transcript variant X3XM_011514358.2:c.N/AIntron Variant
KIF6 transcript variant X4XM_011514359.2:c.N/AIntron Variant
KIF6 transcript variant X8XM_011514361.2:c.N/AIntron Variant
KIF6 transcript variant X5XM_017010427.1:c.N/AIntron Variant
KIF6 transcript variant X6XM_017010428.1:c.N/AGenic Upstream Transcript Variant
KIF6 transcript variant X7XR_001743238.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.699C=0.301
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=0.733C=0.267
1000GenomesEuropeSub1006T=0.961C=0.039
1000GenomesGlobalStudy-wide5008T=0.835C=0.165
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.967C=0.033
The Genome Aggregation DatabaseAfricanSub8708T=0.738C=0.262
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1600T=0.694C=0.306
The Genome Aggregation DatabaseEuropeSub18480T=0.958C=0.041
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.880C=0.119
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.857C=0.142
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.962C=0.038
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs93946190.000519alcohol consumption (maxi-drinks)24277619

eQTL of rs9394619 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 rs9394619 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 )
chr63961002439610399E06735647
chr63957741539577676E0683038
chr63958528739585344E06810910
chr63961002439610399E06835647
chr63962147939621641E06847102
chr63954516739545811E069-28566
chr63957741539577676E0693038
chr63957809639578382E0693719
chr63961002439610399E06935647
chr63961759639618044E06943219
chr63962147939621641E06947102
chr63954516739545811E070-28566
chr63955105939551257E071-23120
chr63958495639585058E07110579
chr63958511739585183E07110740
chr63958528739585344E07110910
chr63961002439610399E07135647
chr63962147939621641E07147102
chr63957741539577676E0723038
chr63957809639578382E0723719
chr63958495639585058E07210579
chr63958511739585183E07210740
chr63958528739585344E07210910
chr63962147939621641E07247102
chr63955105939551257E074-23120
chr63958528739585344E07410910
chr63958650239586566E07412125
chr63960541239605602E07431035
chr63961002439610399E07435647
chr63962147939621641E07447102
chr63956164239561723E081-12654
chr63957809639578382E0813719
chr63956164239561723E082-12654
chr63956200439562197E082-12180
chr63956223039562445E082-11932