rs9825823

Homo sapiens
T>C
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0459 (13744/29888,GnomAD)
C=0451 (13153/29118,TOPMED)
C=0376 (1882/5008,1000G)
T==0454 (1749/3854,ALSPAC)
T==0450 (1670/3708,TWINSUK)
chr3:61096480 (GRCh38.p7) (3p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.61096480T>C
GRCh37.p13 chr 3NC_000003.11:g.61082153T>C
FHIT RefSeqGeneNG_007551.2:g.159980A>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
1000GenomesAfricanSub1322T=0.644C=0.356
1000GenomesAmericanSub694T=0.630C=0.370
1000GenomesEast AsianSub1008T=0.826C=0.174
1000GenomesEuropeSub1006T=0.454C=0.546
1000GenomesGlobalStudy-wide5008T=0.624C=0.376
1000GenomesSouth AsianSub978T=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.454C=0.546
The Genome Aggregation DatabaseAfricanSub8684T=0.633C=0.367
The Genome Aggregation DatabaseAmericanSub834T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1620T=0.818C=0.182
The Genome Aggregation DatabaseEuropeSub18448T=0.470C=0.529
The Genome Aggregation DatabaseGlobalStudy-wide29888T=0.540C=0.459
The Genome Aggregation DatabaseOtherSub302T=0.360C=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.548C=0.451
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.450C=0.550
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
rs98258230.0000213alcoholismpha002891
rs98258230.0000213alcohol dependence20201924

eQTL of rs9825823 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 rs9825823 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 )
chr36106684361067014E067-15139
chr36106402361064067E069-18086
chr36106684361067014E069-15139
chr36109153261091772E0709379
chr36109409061094239E07011937
chr36106647761066702E071-15451
chr36106684361067014E071-15139
chr36106647761066702E072-15451
chr36106684361067014E072-15139
chr36106420161064245E074-17908
chr36106647761066702E074-15451
chr36106684361067014E074-15139
chr36104603361046566E081-35587
chr36107862661078831E081-3322
chr36107896161079183E081-2970