rs17062350

Homo sapiens
C>T
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0359 (10751/29910,GnomAD)
T=0424 (12345/29116,TOPMED)
T=0352 (1761/5008,1000G)
T=0297 (1143/3854,ALSPAC)
T=0301 (1117/3708,TWINSUK)
chr3:60143118 (GRCh38.p7) (3p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.60143118C>T
GRCh37.p13 chr 3NC_000003.11:g.60128846C>T
FHIT RefSeqGeneNG_007551.2:g.1113342G>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
1000GenomesAfricanSub1322C=0.407T=0.593
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.794T=0.206
1000GenomesEuropeSub1006C=0.694T=0.306
1000GenomesGlobalStudy-wide5008C=0.648T=0.352
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.703T=0.297
The Genome Aggregation DatabaseAfricanSub8690C=0.441T=0.559
The Genome Aggregation DatabaseAmericanSub838C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1614C=0.805T=0.195
The Genome Aggregation DatabaseEuropeSub18470C=0.717T=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.640T=0.359
The Genome Aggregation DatabaseOtherSub298C=0.500T=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.576T=0.424
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.699T=0.301
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
rs170623500.00097alcohol dependence20201924

eQTL of rs17062350 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 rs17062350 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 )
chr36008216560082536E067-46310
chr36009084060090908E067-37938
chr36009134760091474E067-37372
chr36013201060132470E0673164
chr36011156860111713E068-17133
chr36011251160112571E068-16275
chr36013201060132470E0683164
chr36013290360132961E0684057
chr36013307160133262E0684225
chr36008126960081544E069-47302
chr36009084060090908E069-37938
chr36011156860111713E069-17133
chr36008044060080512E070-48334
chr36008079760080946E070-47900
chr36008126960081544E070-47302
chr36013331360133367E0704467
chr36008079760080946E071-47900
chr36008126960081544E071-47302
chr36009084060090908E071-37938
chr36011156860111713E071-17133
chr36013201060132470E0713164
chr36013290360132961E0714057
chr36013307160133262E0714225
chr36013331360133367E0714467
chr36013348460133577E0714638
chr36013523860135501E0716392
chr36009052760090584E072-38262
chr36009058560090637E072-38209
chr36009084060090908E072-37938
chr36013201060132470E0723164
chr36013290360132961E0724057
chr36013307160133262E0724225
chr36013331360133367E0724467
chr36013348460133577E0724638
chr36013201060132470E0733164
chr36009058560090637E074-38209
chr36009084060090908E074-37938
chr36010058160100639E074-28207
chr36011156860111713E074-17133
chr36011251160112571E074-16275
chr36011275060112822E074-16024
chr36013201060132470E0743164
chr36013290360132961E0744057
chr36013307160133262E0744225
chr36013331360133367E0744467
chr36013348460133577E0744638
chr36013523860135501E0746392
chr36008044060080512E081-48334
chr36008126960081544E081-47302
chr36013307160133262E0814225
chr36013331360133367E0814467
chr36014602560146079E08117179
chr36014615160146225E08117305
chr36014624160147186E08117395
chr36014602560146079E08217179
chr36014615160146225E08217305
chr36014624160147186E08217395
chr36014724560147645E08218399