rs6061245

Homo sapiens
T>C
GATA5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0495 (14820/29906,GnomAD)
C=0492 (14330/29118,TOPMED)
T==0479 (2400/5008,1000G)
T==0492 (1895/3854,ALSPAC)
T==0484 (1793/3708,TWINSUK)
chr20:62469171 (GRCh38.p7) (20q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.62469171T>C
GRCh37.p13 chr 20 fix patch HG506_HG507_HG1000_PATCHNW_003571063.2:g.12689T>C
GATA5 RefSeqGeneNG_046963.1:g.11800A>G
GRCh37.p13 chr 20NC_000020.10:g.61044227T>C

Gene: GATA5, GATA binding protein 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GATA5 transcriptNM_080473.4:c.N/AIntron Variant
GATA5 transcript variant X1XM_006723699.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.542C=0.458
1000GenomesAmericanSub694T=0.580C=0.420
1000GenomesEast AsianSub1008T=0.495C=0.505
1000GenomesEuropeSub1006T=0.524C=0.476
1000GenomesGlobalStudy-wide5008T=0.479C=0.521
1000GenomesSouth AsianSub978T=0.260C=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.492C=0.508
The Genome Aggregation DatabaseAfricanSub8716T=0.542C=0.458
The Genome Aggregation DatabaseAmericanSub838T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1618T=0.522C=0.478
The Genome Aggregation DatabaseEuropeSub18432T=0.467C=0.533
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.495C=0.504
The Genome Aggregation DatabaseOtherSub302T=0.480C=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.507C=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.484C=0.516
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
rs60612450.0009alcohol dependence21314694

eQTL of rs6061245 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 rs6061245 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.