rs7808586

Homo sapiens
G>A / G>C
PLXNA4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0311 (9316/29918,GnomAD)
G==0263 (7657/29118,TOPMED)
A=0295 (3708/12548,GO-ESP)
G==0210 (1052/5008,1000G)
G==0413 (1590/3854,ALSPAC)
G==0418 (1551/3708,TWINSUK)
chr7:132174737 (GRCh38.p7) (7q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
80 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.132174737G>A
GRCh38.p7 chr 7NC_000007.14:g.132174737G>C
GRCh37.p13 chr 7NC_000007.13:g.131859496G>A
GRCh37.p13 chr 7NC_000007.13:g.131859496G>C

Gene: PLXNA4, plexin A4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PLXNA4 transcript variant 1NM_020911.1:c.N/AIntron Variant
PLXNA4 transcript variant 3NM_001105543.1:c.N/AGenic Downstream Transcript Variant
PLXNA4 transcript variant 2NM_181775.3:c.N/AGenic Downstream Transcript Variant
PLXNA4 transcript variant X2XM_005250686.4:c.N/AIntron Variant
PLXNA4 transcript variant X1XM_006716171.3:c.N/AIntron Variant
PLXNA4 transcript variant X4XM_011516676.2:c.N/AIntron Variant
PLXNA4 transcript variant X3XM_017012779.1:c.N/AIntron Variant
PLXNA4 transcript variant X5XR_927546.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.021A=0.979
1000GenomesAmericanSub694G=0.280A=0.720
1000GenomesEast AsianSub1008G=0.309A=0.691
1000GenomesEuropeSub1006G=0.392A=0.608
1000GenomesGlobalStudy-wide5008G=0.210A=0.790
1000GenomesSouth AsianSub978G=0.130A=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.413A=0.587
The Genome Aggregation DatabaseAfricanSub8720G=0.079A=0.921
The Genome Aggregation DatabaseAmericanSub838G=0.340A=0.660
The Genome Aggregation DatabaseEast AsianSub1622G=0.306A=0.694
The Genome Aggregation DatabaseEuropeSub18436G=0.420A=0.579
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.311A=0.688
The Genome Aggregation DatabaseOtherSub302G=0.290A=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.263A=0.737
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.418A=0.582
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs78085869.35E-05alcohol consumption23743675

eQTL of rs7808586 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 rs7808586 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 )
chr7112124577112125469E067-32329
chr7112135019112135073E067-22725
chr7112135123112135177E067-22621
chr7112135296112135450E067-22348
chr7112120422112121704E068-36094
chr7112121782112122763E068-35035
chr7112124577112125469E068-32329
chr7112125538112125624E068-32174
chr7112125659112125779E068-32019
chr7112125784112126182E068-31616
chr7112133406112133494E068-24304
chr7112133541112133746E068-24052
chr7112121782112122763E069-35035
chr7112126951112127063E069-30735
chr7112127214112127312E069-30486
chr7112127398112127448E069-30350
chr7112127483112127594E069-30204
chr7112151577112152193E069-5605
chr7112151577112152193E070-5605
chr7112152349112153242E070-4556
chr7112153277112153317E070-4481
chr7112153650112153700E070-4098
chr7112153792112153846E070-3952
chr7112206365112207462E07048567
chr7112120422112121704E071-36094
chr7112121782112122763E071-35035
chr7112124577112125469E071-32329
chr7112125538112125624E071-32174
chr7112126361112126478E071-31320
chr7112126524112126564E071-31234
chr7112126951112127063E071-30735
chr7112127214112127312E071-30486
chr7112127398112127448E071-30350
chr7112127483112127594E071-30204
chr7112135465112136429E071-21369
chr7112145528112146000E071-11798
chr7112124577112125469E072-32329
chr7112125538112125624E072-32174
chr7112125659112125779E072-32019
chr7112125784112126182E072-31616
chr7112126951112127063E072-30735
chr7112127214112127312E072-30486
chr7112127398112127448E072-30350
chr7112127483112127594E072-30204
chr7112127633112127882E072-29916
chr7112133406112133494E072-24304
chr7112133541112133746E072-24052
chr7112135296112135450E072-22348
chr7112135465112136429E072-21369
chr7112120422112121704E074-36094
chr7112121782112122763E074-35035
chr7112124577112125469E074-32329
chr7112125538112125624E074-32174
chr7112125659112125779E074-32019
chr7112125784112126182E074-31616
chr7112126361112126478E074-31320
chr7112126524112126564E074-31234
chr7112126823112126947E074-30851
chr7112126951112127063E074-30735
chr7112127214112127312E074-30486
chr7112127398112127448E074-30350
chr7112127483112127594E074-30204
chr7112133406112133494E074-24304
chr7112133541112133746E074-24052
chr7112135019112135073E074-22725
chr7112135123112135177E074-22621
chr7112135296112135450E074-22348
chr7112135465112136429E074-21369
chr7112151577112152193E081-5605
chr7112152349112153242E081-4556
chr7112153277112153317E081-4481
chr7112153650112153700E081-4098
chr7112153792112153846E081-3952
chr7112154292112154459E081-3339
chr7112206365112207462E08148567
chr7112151577112152193E082-5605
chr7112152349112153242E082-4556
chr7112153277112153317E082-4481
chr7112205870112205953E08248072
chr7112206365112207462E08248567