rs6968634

Homo sapiens
G>A
PLXNA4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0315 (9450/29924,GnomAD)
G==0260 (7590/29118,TOPMED)
G==0221 (1105/5008,1000G)
G==0410 (1580/3854,ALSPAC)
G==0419 (1553/3708,TWINSUK)
chr7:132183083 (GRCh38.p7) (7q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
129 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.132183083G>A
GRCh37.p13 chr 7NC_000007.13:g.131867842G>A

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=0.350A=0.650
1000GenomesEuropeSub1006G=0.391A=0.609
1000GenomesGlobalStudy-wide5008G=0.221A=0.779
1000GenomesSouth AsianSub978G=0.140A=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.410A=0.590
The Genome Aggregation DatabaseAfricanSub8716G=0.079A=0.921
The Genome Aggregation DatabaseAmericanSub838G=0.330A=0.670
The Genome Aggregation DatabaseEast AsianSub1612G=0.338A=0.662
The Genome Aggregation DatabaseEuropeSub18456G=0.425A=0.574
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.315A=0.684
The Genome Aggregation DatabaseOtherSub302G=0.280A=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.260A=0.739
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.419A=0.581
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
rs69686344.5E-05alcohol consumption23743675

eQTL of rs6968634 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 rs6968634 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 )
chr7131824892131825282E067-42560
chr7131825393131825569E067-42273
chr7131829948131830001E067-37841
chr7131830013131830097E067-37745
chr7131830162131830629E067-37213
chr7131836810131837186E067-30656
chr7131845356131846405E067-21437
chr7131861840131862016E068-5826
chr7131862056131862145E068-5697
chr7131875288131875338E0687446
chr7131875472131875566E0687630
chr7131829948131830001E069-37841
chr7131830013131830097E069-37745
chr7131830162131830629E069-37213
chr7131845356131846405E069-21437
chr7131845356131846405E070-21437
chr7131846926131847325E070-20517
chr7131847370131847868E070-19974
chr7131861697131861776E070-6066
chr7131861840131862016E070-5826
chr7131862056131862145E070-5697
chr7131862195131862862E070-4980
chr7131862938131863000E070-4842
chr7131863053131863194E070-4648
chr7131863195131863433E070-4409
chr7131899000131899050E07031158
chr7131899054131899270E07031212
chr7131845356131846405E071-21437
chr7131829858131829944E072-37898
chr7131829948131830001E072-37841
chr7131830162131830629E072-37213
chr7131837670131837720E072-30122
chr7131845356131846405E072-21437
chr7131846926131847325E072-20517
chr7131825393131825569E073-42273
chr7131845356131846405E074-21437
chr7131825393131825569E081-42273
chr7131825941131826221E081-41621
chr7131826797131826848E081-40994
chr7131826927131827042E081-40800
chr7131827477131827531E081-40311
chr7131827611131827745E081-40097
chr7131828076131828184E081-39658
chr7131828621131828674E081-39168
chr7131828790131828856E081-38986
chr7131828922131828972E081-38870
chr7131829260131829340E081-38502
chr7131829351131829401E081-38441
chr7131829662131829790E081-38052
chr7131829858131829944E081-37898
chr7131829948131830001E081-37841
chr7131834103131834532E081-33310
chr7131834788131834895E081-32947
chr7131835168131835257E081-32585
chr7131835358131835421E081-32421
chr7131840708131840810E081-27032
chr7131840979131841097E081-26745
chr7131841344131841420E081-26422
chr7131842565131842615E081-25227
chr7131842745131842825E081-25017
chr7131842846131842896E081-24946
chr7131842969131843244E081-24598
chr7131843356131843477E081-24365
chr7131843791131843867E081-23975
chr7131845086131845126E081-22716
chr7131845356131846405E081-21437
chr7131846450131846564E081-21278
chr7131846592131846827E081-21015
chr7131846926131847325E081-20517
chr7131847370131847868E081-19974
chr7131847937131847991E081-19851
chr7131848242131848322E081-19520
chr7131848540131848590E081-19252
chr7131848628131848718E081-19124
chr7131848848131849019E081-18823
chr7131849242131849292E081-18550
chr7131849342131849477E081-18365
chr7131860522131860572E081-7270
chr7131862056131862145E081-5697
chr7131862195131862862E081-4980
chr7131862938131863000E081-4842
chr7131863053131863194E081-4648
chr7131863195131863433E081-4409
chr7131863522131863576E081-4266
chr7131863673131863813E081-4029
chr7131863841131864073E081-3769
chr7131864312131864449E081-3393
chr7131867569131867669E081-173
chr7131867684131867734E081-108
chr7131867776131868096E0810
chr7131868144131868184E081302
chr7131868245131868843E081403
chr7131868880131869103E0811038
chr7131911228131911443E08143386
chr7131911578131911638E08143736
chr7131911751131911819E08143909
chr7131911838131911917E08143996
chr7131911999131912065E08144157
chr7131825941131826221E082-41621
chr7131826797131826848E082-40994
chr7131828790131828856E082-38986
chr7131828922131828972E082-38870
chr7131829260131829340E082-38502
chr7131829351131829401E082-38441
chr7131829662131829790E082-38052
chr7131829858131829944E082-37898
chr7131829948131830001E082-37841
chr7131834788131834895E082-32947
chr7131839415131839463E082-28379
chr7131839564131839735E082-28107
chr7131839841131839891E082-27951
chr7131839991131840235E082-27607
chr7131840380131840494E082-27348
chr7131842745131842825E082-25017
chr7131842846131842896E082-24946
chr7131842969131843244E082-24598
chr7131843356131843477E082-24365
chr7131845356131846405E082-21437
chr7131846450131846564E082-21278
chr7131846592131846827E082-21015
chr7131846926131847325E082-20517
chr7131847370131847868E082-19974
chr7131847937131847991E082-19851
chr7131861840131862016E082-5826
chr7131862056131862145E082-5697
chr7131862195131862862E082-4980
chr7131868245131868843E082403
chr7131868880131869103E0821038
chr7131911999131912065E08244157