rs7613732

Homo sapiens
A>G
HGD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0006 (187/29990,GnomAD)
G=0009 (284/29118,TOPMED)
G=0009 (45/5008,1000G)
G=0000 (1/3854,ALSPAC)
G=0000 (0/3708,TWINSUK)
chr3:120631658 (GRCh38.p7) (3q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
82 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.120631658A>G
GRCh37.p13 chr 3NC_000003.11:g.120350505A>G
HGD RefSeqGeneNG_011957.1:g.55824T>C

Gene: HGD, homogentisate 1,2-dioxygenase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HGD transcriptNM_000187.3:c.N/AIntron Variant
HGD transcript variant X1XM_005247412.1:c.N/AIntron Variant
HGD transcript variant X3XM_017006277.1:c.N/AIntron Variant
HGD transcript variant X2XM_005247413.1:c.N/AGenic Downstream Transcript Variant
HGD transcript variant X5XM_005247414.4:c.N/AGenic Downstream Transcript Variant
HGD transcript variant X4XM_011512746.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.967G=0.033
1000GenomesAmericanSub694A=1.000G=0.000
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.999G=0.001
1000GenomesGlobalStudy-wide5008A=0.991G=0.009
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8732A=0.979G=0.021
The Genome Aggregation DatabaseAmericanSub838A=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18496A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29990A=0.993G=0.006
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.990G=0.009
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=1.000G=0.000
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
rs76137320.000382alcohol dependence21314694

eQTL of rs7613732 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 rs7613732 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 )
chr3120317854120317894E067-32611
chr3120318647120318991E067-31514
chr3120365669120365788E06715164
chr3120365895120366201E06715390
chr3120397028120397141E06746523
chr3120397162120397815E06746657
chr3120317854120317894E068-32611
chr3120318019120318201E068-32304
chr3120318307120318449E068-32056
chr3120318494120318594E068-31911
chr3120318647120318991E068-31514
chr3120319116120319166E068-31339
chr3120319856120319908E068-30597
chr3120343665120344274E068-6231
chr3120392083120392270E06841578
chr3120397832120398171E06847327
chr3120398251120398309E06847746
chr3120317854120317894E069-32611
chr3120318019120318201E069-32304
chr3120318307120318449E069-32056
chr3120318494120318594E069-31911
chr3120318647120318991E069-31514
chr3120397162120397815E06946657
chr3120397832120398171E06947327
chr3120317854120317894E070-32611
chr3120371880120371937E07021375
chr3120371994120372088E07021489
chr3120372166120372286E07021661
chr3120372305120372480E07021800
chr3120392083120392270E07041578
chr3120392776120392824E07042271
chr3120397028120397141E07046523
chr3120397162120397815E07046657
chr3120397832120398171E07047327
chr3120398251120398309E07047746
chr3120314268120314415E071-36090
chr3120317854120317894E071-32611
chr3120318019120318201E071-32304
chr3120318307120318449E071-32056
chr3120318494120318594E071-31911
chr3120318647120318991E071-31514
chr3120319116120319166E071-31339
chr3120397832120398171E07147327
chr3120317854120317894E072-32611
chr3120397028120397141E07246523
chr3120397832120398171E07247327
chr3120317854120317894E073-32611
chr3120318019120318201E073-32304
chr3120318307120318449E073-32056
chr3120318494120318594E073-31911
chr3120318647120318991E073-31514
chr3120319856120319908E073-30597
chr3120320248120320288E073-30217
chr3120396552120396968E07346047
chr3120397028120397141E07346523
chr3120397162120397815E07346657
chr3120397832120398171E07347327
chr3120314268120314415E074-36090
chr3120317854120317894E074-32611
chr3120318019120318201E074-32304
chr3120318307120318449E074-32056
chr3120318494120318594E074-31911
chr3120318647120318991E074-31514
chr3120397832120398171E07447327
chr3120305910120305950E081-44555
chr3120306532120306813E081-43692
chr3120317854120317894E081-32611
chr3120318019120318201E081-32304
chr3120371212120371659E08120707
chr3120371880120371937E08121375
chr3120371994120372088E08121489
chr3120372166120372286E08121661
chr3120372305120372480E08121800
chr3120380410120380652E08129905
chr3120317854120317894E082-32611
chr3120318019120318201E082-32304
chr3120318307120318449E082-32056
chr3120318494120318594E082-31911
chr3120392083120392270E08241578
chr3120392776120392824E08242271
chr3120397162120397815E08246657
chr3120397832120398171E08247327










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3120314638120315768E067-34737
chr3120315970120316014E067-34491
chr3120314638120315768E068-34737
chr3120315970120316014E068-34491
chr3120314638120315768E069-34737
chr3120315970120316014E069-34491
chr3120314638120315768E070-34737
chr3120315970120316014E070-34491
chr3120314638120315768E071-34737
chr3120315970120316014E071-34491
chr3120314638120315768E072-34737
chr3120315970120316014E072-34491
chr3120314638120315768E073-34737
chr3120315970120316014E073-34491
chr3120314638120315768E074-34737
chr3120315970120316014E074-34491
chr3120314638120315768E081-34737
chr3120315970120316014E081-34491
chr3120314638120315768E082-34737
chr3120315970120316014E082-34491