rs17064083

Homo sapiens
C>G
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0014 (420/29974,GnomAD)
G=0022 (662/29118,TOPMED)
G=0013 (63/5008,1000G)
chr3:60866766 (GRCh38.p7) (3p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.60866766C>G
GRCh37.p13 chr 3 fix patch HG1091_PATCHNW_003871058.1:g.294168C>G
FHIT RefSeqGeneNG_007551.2:g.389694G>C
GRCh37.p13 chr 3NC_000003.11:g.60852438C>G

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=0.955G=0.045
1000GenomesAmericanSub694C=1.000G=0.000
1000GenomesEast AsianSub1008C=1.000G=0.000
1000GenomesEuropeSub1006C=1.000G=0.000
1000GenomesGlobalStudy-wide5008C=0.987G=0.013
1000GenomesSouth AsianSub978C=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8730C=0.952G=0.048
The Genome Aggregation DatabaseAmericanSub838C=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1604C=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18500C=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.986G=0.014
The Genome Aggregation DatabaseOtherSub302C=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.977G=0.022
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs170640830.000113alcohol dependence21314694

eQTL of rs17064083 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 rs17064083 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 )
chr3285032285441E067-8727
chr3317332317482E06723164
chr3320048320269E06725880
chr3320419320741E06726251
chr3269507269567E068-24601
chr3271031271281E068-22887
chr3284361284535E068-9633
chr3319283319476E06825115
chr3319681319803E06825513
chr3320048320269E06825880
chr3320419320741E06826251
chr3321020321604E06826852
chr3284361284535E069-9633
chr3319681319803E06925513
chr3320048320269E06925880
chr3244402244689E070-49479
chr3270665270734E070-23434
chr3271031271281E070-22887
chr3271869272119E070-22049
chr3272228272278E070-21890
chr3285032285441E070-8727
chr3289680289887E070-4281
chr3290704290851E070-3317
chr3305074305363E07010906
chr3305412305492E07011244
chr3305568305666E07011400
chr3305689305743E07011521
chr3326028326410E07031860
chr3326593327176E07032425
chr3258352258597E071-35571
chr3271031271281E071-22887
chr3271869272119E071-22049
chr3284361284535E071-9633
chr3319681319803E07125513
chr3320048320269E07125880
chr3320419320741E07126251
chr3284361284535E072-9633
chr3285032285441E072-8727
chr3320048320269E07225880
chr3320419320741E07226251
chr3289680289887E073-4281
chr3319681319803E07325513
chr3320048320269E07325880
chr3284361284535E074-9633
chr3285032285441E074-8727
chr3306292306805E07412124
chr3320048320269E07425880
chr3320419320741E07426251
chr3247324247374E081-46794
chr3252221252733E081-41435
chr3258352258597E081-35571
chr3271869272119E081-22049
chr3284361284535E081-9633
chr3285032285441E081-8727
chr3289680289887E081-4281
chr3290704290851E081-3317
chr3305074305363E08110906
chr3305412305492E08111244
chr3305568305666E08111400
chr3305689305743E08111521
chr3318995319054E08124827
chr3319283319476E08125115
chr3319681319803E08125513
chr3320048320269E08125880
chr3320419320741E08126251
chr3321020321604E08126852
chr3322369322427E08128201
chr3322551322627E08128383
chr3326028326410E08131860
chr3326593327176E08132425
chr3327227327281E08133059
chr3330206330384E08136038
chr3245920246032E082-48136
chr3271869272119E082-22049
chr3272228272278E082-21890
chr3284361284535E082-9633
chr3285032285441E082-8727
chr3289680289887E082-4281
chr3290704290851E082-3317
chr3319681319803E08225513
chr3320048320269E08225880
chr3320419320741E08226251
chr3326028326410E08231860