rs6445194

Homo sapiens
G>T
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0425 (12718/29916,GnomAD)
T=0450 (13118/29118,TOPMED)
T=0362 (1813/5008,1000G)
T=0486 (1872/3854,ALSPAC)
T=0483 (1791/3708,TWINSUK)
chr3:61125522 (GRCh38.p7) (3p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.61125522G>T
GRCh37.p13 chr 3NC_000003.11:g.61111195G>T
FHIT RefSeqGeneNG_007551.2:g.130938C>A

Gene: FHIT, fragile histidine triad(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FHIT transcript variant 2NM_001166243.2:c.N/AIntron Variant
FHIT transcript variant 3NM_001320899.1:c.N/AIntron Variant
FHIT transcript variant 4NM_001320900.1:c.N/AIntron Variant
FHIT transcript variant 1NM_002012.3:c.N/AIntron Variant
FHIT transcript variant 5NM_001320901.1:c.N/AGenic Upstream Transcript Variant
FHIT transcript variant 6NR_135491.1:n.N/AGenic Upstream Transcript Variant
FHIT transcript variant X1XM_017005880.1:c.N/AIntron Variant
FHIT transcript variant X2XM_017005881.1:c.N/AIntron Variant
FHIT transcript variant X3XM_017005882.1:c.N/AIntron Variant
FHIT transcript variant X4XM_017005883.1:c.N/AIntron Variant
FHIT transcript variant X5XM_017005884.1:c.N/AIntron Variant
FHIT transcript variant X6XM_017005885.1:c.N/AGenic Upstream Transcript Variant
FHIT transcript variant X7XM_017005886.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.617T=0.383
1000GenomesAmericanSub694G=0.660T=0.340
1000GenomesEast AsianSub1008G=0.850T=0.150
1000GenomesEuropeSub1006G=0.501T=0.499
1000GenomesGlobalStudy-wide5008G=0.638T=0.362
1000GenomesSouth AsianSub978G=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.514T=0.486
The Genome Aggregation DatabaseAfricanSub8718G=0.600T=0.400
The Genome Aggregation DatabaseAmericanSub834G=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1606G=0.845T=0.155
The Genome Aggregation DatabaseEuropeSub18458G=0.538T=0.461
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.574T=0.425
The Genome Aggregation DatabaseOtherSub300G=0.390T=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.549T=0.450
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.517T=0.483
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
rs64451940.000128alcohol dependence20201924

eQTL of rs6445194 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 rs6445194 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 )
chr36106684361067014E067-44181
chr36114146561141810E06730270
chr36106402361064067E069-47128
chr36106684361067014E069-44181
chr36114026561140552E06929070
chr36114064861140749E06929453
chr36114081061140867E06929615
chr36114146561141810E06930270
chr36109153261091772E070-19423
chr36109409061094239E070-16956
chr36114026561140552E07029070
chr36114064861140749E07029453
chr36114081061140867E07029615
chr36106647761066702E071-44493
chr36106684361067014E071-44181
chr36114146561141810E07130270
chr36106647761066702E072-44493
chr36106684361067014E072-44181
chr36114146561141810E07230270
chr36114324261143419E07232047
chr36106420161064245E074-46950
chr36106647761066702E074-44493
chr36106684361067014E074-44181
chr36115844361158713E07447248
chr36115904561159239E07447850
chr36107862661078831E081-32364
chr36107896161079183E081-32012
chr36113310261133177E08121907
chr36114026561140552E08129070
chr36114064861140749E08129453
chr36114026561140552E08229070
chr36114064861140749E08229453
chr36114081061140867E08229615