rs7085141

Homo sapiens
A>G
P4HA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0151 (4445/29420,GnomAD)
G=0197 (5756/29118,TOPMED)
G=0236 (1183/5008,1000G)
G=0058 (222/3854,ALSPAC)
G=0055 (204/3708,TWINSUK)
chr10:73017023 (GRCh38.p7) (10q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.73017023A>G
GRCh37.p13 chr 10NC_000010.10:g.74776781A>G

Gene: P4HA1, prolyl 4-hydroxylase subunit alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
P4HA1 transcript variant 1NM_000917.3:c.N/AIntron Variant
P4HA1 transcript variant 2NM_001017962.2:c.N/AIntron Variant
P4HA1 transcript variant 3NM_001142595.1:c.N/AIntron Variant
P4HA1 transcript variant 4NM_001142596.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.626G=0.374
1000GenomesAmericanSub694A=0.880G=0.120
1000GenomesEast AsianSub1008A=0.696G=0.304
1000GenomesEuropeSub1006A=0.944G=0.056
1000GenomesGlobalStudy-wide5008A=0.764G=0.236
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.942G=0.058
The Genome Aggregation DatabaseAfricanSub8248A=0.668G=0.332
The Genome Aggregation DatabaseAmericanSub832A=0.910G=0.090
The Genome Aggregation DatabaseEast AsianSub1610A=0.702G=0.298
The Genome Aggregation DatabaseEuropeSub18428A=0.938G=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29420A=0.848G=0.151
The Genome Aggregation DatabaseOtherSub302A=0.900G=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.802G=0.197
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.945G=0.055
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
rs70851410.00072alcohol dependence20201924

eQTL of rs7085141 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 rs7085141 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 )
chr107477774574778283E067964
chr107477838874778726E0671607
chr107477885874778992E0672077
chr107477838874778726E0691607
chr107477885874778992E0692077
chr107477901974779069E0692238
chr107477838874778726E0711607
chr107477885874778992E0712077