rs7809455

Homo sapiens
T>C
PEX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0057 (1717/29978,GnomAD)
C=0071 (2072/29118,TOPMED)
C=0107 (534/5008,1000G)
C=0017 (64/3854,ALSPAC)
C=0019 (71/3708,TWINSUK)
chr7:92506759 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92506759T>C
GRCh37.p13 chr 7NC_000007.13:g.92136073T>C
PEX1 RefSeqGeneNG_008341.1:g.26773A>G

Gene: PEX1, peroxisomal biogenesis factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PEX1 transcript variant 1NM_000466.2:c.N/AIntron Variant
PEX1 transcript variant 2NM_001282677.1:c.N/AIntron Variant
PEX1 transcript variant 3NM_001282678.1:c.N/AIntron Variant
PEX1 transcript variant X2XM_017012319.1:c.N/AIntron Variant
PEX1 transcript variant X3XR_001744808.1:n.N/AIntron Variant
PEX1 transcript variant X1XR_242246.4:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.898C=0.102
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.725C=0.275
1000GenomesEuropeSub1006T=0.981C=0.019
1000GenomesGlobalStudy-wide5008T=0.893C=0.107
1000GenomesSouth AsianSub978T=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.983C=0.017
The Genome Aggregation DatabaseAfricanSub8726T=0.904C=0.096
The Genome Aggregation DatabaseAmericanSub836T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1620T=0.704C=0.296
The Genome Aggregation DatabaseEuropeSub18494T=0.985C=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29978T=0.942C=0.057
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.928C=0.071
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.981C=0.019
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
rs78094550.00051alcohol dependence20201924

eQTL of rs7809455 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:92136073RBM48ENSG00000127993.10T>C2.2782e-4-22014Hypothalamus
Chr7:92136073RBM48ENSG00000127993.10T>C1.0146e-2-22014Hippocampus

meQTL of rs7809455 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 )
chr79216383492163874E06727761
chr79216392392164003E06727850
chr79216404892164147E06727975
chr79216480392164887E06728730
chr79215522792155275E06819154
chr79215528792155347E06819214
chr79216383492163874E06927761
chr79216392392164003E06927850
chr79216404892164147E06927975
chr79216480392164887E06928730
chr79216553392165573E06929460
chr79215484092154904E07018767
chr79215522792155275E07019154
chr79215528792155347E07019214
chr79215542692155482E07019353
chr79215522792155275E07119154
chr79215528792155347E07119214
chr79215542692155482E07119353
chr79215522792155275E07219154
chr79215528792155347E07219214
chr79215542692155482E07219353
chr79216392392164003E07227850
chr79216404892164147E07227975
chr79215522792155275E07319154
chr79215528792155347E07319214
chr79215542692155482E07319353
chr79216383492163874E07427761
chr79216392392164003E07427850
chr79216404892164147E07427975








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79215674592158674E06720672
chr79215872192158793E06722648
chr79215674592158674E06820672
chr79215872192158793E06822648
chr79215674592158674E06920672
chr79215872192158793E06922648
chr79215674592158674E07020672
chr79215872192158793E07022648
chr79215674592158674E07120672
chr79215872192158793E07122648
chr79215674592158674E07220672
chr79215872192158793E07222648
chr79215674592158674E07320672
chr79215872192158793E07322648
chr79215674592158674E07420672
chr79215872192158793E07422648
chr79215674592158674E08120672
chr79215872192158793E08122648
chr79215674592158674E08220672
chr79215872192158793E08222648