rs6953894

Homo sapiens
A>G
PODXL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0347 (10358/29834,GnomAD)
A==0342 (9959/29118,TOPMED)
A==0314 (1573/5008,1000G)
A==0379 (1461/3854,ALSPAC)
A==0384 (1425/3708,TWINSUK)
chr7:131538418 (GRCh38.p7) (7q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
184 Enhancers around
47 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.131538418A>G
GRCh37.p13 chr 7NC_000007.13:g.131223177A>G
PODXL RefSeqGeneNG_042104.1:g.23200T>C

Gene: PODXL, podocalyxin like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PODXL transcript variant 1NM_001018111.2:c.N/AIntron Variant
PODXL transcript variant 2NM_005397.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.284G=0.716
1000GenomesAmericanSub694A=0.500G=0.500
1000GenomesEast AsianSub1008A=0.166G=0.834
1000GenomesEuropeSub1006A=0.372G=0.628
1000GenomesGlobalStudy-wide5008A=0.314G=0.686
1000GenomesSouth AsianSub978A=0.310G=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.379G=0.621
The Genome Aggregation DatabaseAfricanSub8690A=0.269G=0.731
The Genome Aggregation DatabaseAmericanSub836A=0.560G=0.440
The Genome Aggregation DatabaseEast AsianSub1616A=0.119G=0.881
The Genome Aggregation DatabaseEuropeSub18390A=0.394G=0.605
The Genome Aggregation DatabaseGlobalStudy-wide29834A=0.347G=0.652
The Genome Aggregation DatabaseOtherSub302A=0.350G=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.342G=0.658
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.384G=0.616
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
rs69538940.000716alcohol dependence21314694

eQTL of rs6953894 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 rs6953894 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 )
chr7131177471131177640E067-45537
chr7131177808131177931E067-45246
chr7131178144131178282E067-44895
chr7131178315131178928E067-44249
chr7131186871131188447E067-34730
chr7131188534131188666E067-34511
chr7131188695131188783E067-34394
chr7131188811131188914E067-34263
chr7131188951131189351E067-33826
chr7131189368131189547E067-33630
chr7131192501131193106E067-30071
chr7131193132131193236E067-29941
chr7131198047131198173E067-25004
chr7131198180131198861E067-24316
chr7131223549131223616E067372
chr7131223637131223826E067460
chr7131223853131223929E067676
chr7131178144131178282E068-44895
chr7131178315131178928E068-44249
chr7131183799131184066E068-39111
chr7131184182131184256E068-38921
chr7131184342131184392E068-38785
chr7131186871131188447E068-34730
chr7131188534131188666E068-34511
chr7131188695131188783E068-34394
chr7131188811131188914E068-34263
chr7131188951131189351E068-33826
chr7131198180131198861E068-24316
chr7131207089131207299E068-15878
chr7131207331131207690E068-15487
chr7131207824131207904E068-15273
chr7131207993131208037E068-15140
chr7131223549131223616E068372
chr7131223637131223826E068460
chr7131223853131223929E068676
chr7131229445131230340E0686268
chr7131230491131230593E0687314
chr7131230768131231233E0687591
chr7131272344131272404E06849167
chr7131272522131272617E06849345
chr7131178144131178282E069-44895
chr7131178315131178928E069-44249
chr7131186871131188447E069-34730
chr7131188534131188666E069-34511
chr7131188695131188783E069-34394
chr7131188811131188914E069-34263
chr7131188951131189351E069-33826
chr7131189368131189547E069-33630
chr7131189601131189725E069-33452
chr7131192501131193106E069-30071
chr7131198047131198173E069-25004
chr7131198180131198861E069-24316
chr7131207331131207690E069-15487
chr7131207721131207773E069-15404
chr7131222772131222865E069-312
chr7131222885131222935E069-242
chr7131223152131223546E0690
chr7131223549131223616E069372
chr7131223637131223826E069460
chr7131223853131223929E069676
chr7131224002131224083E069825
chr7131224157131224207E069980
chr7131265878131266924E06942701
chr7131177808131177931E070-45246
chr7131178144131178282E070-44895
chr7131178315131178928E070-44249
chr7131179360131179404E070-43773
chr7131198180131198861E070-24316
chr7131222772131222865E070-312
chr7131222885131222935E070-242
chr7131223152131223546E0700
chr7131223549131223616E070372
chr7131223637131223826E070460
chr7131177808131177931E071-45246
chr7131178144131178282E071-44895
chr7131178315131178928E071-44249
chr7131180025131180188E071-42989
chr7131180526131180634E071-42543
chr7131186871131188447E071-34730
chr7131188534131188666E071-34511
chr7131188695131188783E071-34394
chr7131188811131188914E071-34263
chr7131188951131189351E071-33826
chr7131192501131193106E071-30071
chr7131198180131198861E071-24316
chr7131207089131207299E071-15878
chr7131207331131207690E071-15487
chr7131221175131221479E071-1698
chr7131223152131223546E0710
chr7131223549131223616E071372
chr7131223637131223826E071460
chr7131223853131223929E071676
chr7131224002131224083E071825
chr7131224157131224207E071980
chr7131227049131227162E0713872
chr7131227516131227566E0714339
chr7131227607131227702E0714430
chr7131229050131229196E0715873
chr7131178144131178282E072-44895
chr7131178315131178928E072-44249
chr7131186871131188447E072-34730
chr7131188534131188666E072-34511
chr7131188695131188783E072-34394
chr7131188811131188914E072-34263
chr7131188951131189351E072-33826
chr7131189368131189547E072-33630
chr7131192501131193106E072-30071
chr7131193132131193236E072-29941
chr7131193312131193437E072-29740
chr7131193635131194048E072-29129
chr7131194123131194177E072-29000
chr7131198047131198173E072-25004
chr7131198180131198861E072-24316
chr7131223549131223616E072372
chr7131223637131223826E072460
chr7131223853131223929E072676
chr7131229445131230340E0726268
chr7131178144131178282E073-44895
chr7131178315131178928E073-44249
chr7131186871131188447E073-34730
chr7131188534131188666E073-34511
chr7131188695131188783E073-34394
chr7131188811131188914E073-34263
chr7131188951131189351E073-33826
chr7131192501131193106E073-30071
chr7131193132131193236E073-29941
chr7131198180131198861E073-24316
chr7131223152131223546E0730
chr7131223549131223616E073372
chr7131223637131223826E073460
chr7131223853131223929E073676
chr7131224002131224083E073825
chr7131224157131224207E073980
chr7131224427131224549E0731250
chr7131224589131224785E0731412
chr7131224839131224930E0731662
chr7131224972131225022E0731795
chr7131225063131225253E0731886
chr7131225290131225982E0732113
chr7131265878131266924E07342701
chr7131270983131271476E07347806
chr7131271531131271667E07348354
chr7131271674131271734E07348497
chr7131271793131271846E07348616
chr7131178144131178282E074-44895
chr7131178315131178928E074-44249
chr7131186871131188447E074-34730
chr7131188534131188666E074-34511
chr7131188695131188783E074-34394
chr7131188811131188914E074-34263
chr7131188951131189351E074-33826
chr7131192501131193106E074-30071
chr7131193132131193236E074-29941
chr7131198047131198173E074-25004
chr7131198180131198861E074-24316
chr7131207089131207299E074-15878
chr7131207331131207690E074-15487
chr7131222572131222756E074-421
chr7131222772131222865E074-312
chr7131222885131222935E074-242
chr7131223152131223546E0740
chr7131223549131223616E074372
chr7131223637131223826E074460
chr7131265878131266924E07442701
chr7131178144131178282E081-44895
chr7131178315131178928E081-44249
chr7131198047131198173E081-25004
chr7131208939131209112E081-14065
chr7131209211131209382E081-13795
chr7131223549131223616E081372
chr7131223637131223826E081460
chr7131223853131223929E081676
chr7131235436131235714E08112259
chr7131235754131235991E08112577
chr7131236018131236175E08112841
chr7131236287131236395E08113110
chr7131243388131243446E08120211
chr7131243489131243838E08120312
chr7131271531131271667E08148354
chr7131198047131198173E082-25004
chr7131209211131209382E082-13795
chr7131236287131236395E08213110
chr7131243388131243446E08220211
chr7131243489131243838E08220312










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7131238655131238765E06715478
chr7131238868131239008E06715691
chr7131239081131239308E06715904
chr7131239353131239833E06716176
chr7131239853131240138E06716676
chr7131240248131243216E06717071
chr7131238655131238765E06815478
chr7131238868131239008E06815691
chr7131239081131239308E06815904
chr7131239353131239833E06816176
chr7131239853131240138E06816676
chr7131240248131243216E06817071
chr7131239353131239833E06916176
chr7131239853131240138E06916676
chr7131240248131243216E06917071
chr7131239353131239833E07016176
chr7131240248131243216E07017071
chr7131238655131238765E07115478
chr7131238868131239008E07115691
chr7131239081131239308E07115904
chr7131239353131239833E07116176
chr7131239853131240138E07116676
chr7131240248131243216E07117071
chr7131238868131239008E07215691
chr7131239081131239308E07215904
chr7131239353131239833E07216176
chr7131239853131240138E07216676
chr7131240248131243216E07217071
chr7131238465131238519E07315288
chr7131238655131238765E07315478
chr7131238868131239008E07315691
chr7131239081131239308E07315904
chr7131239353131239833E07316176
chr7131239853131240138E07316676
chr7131240248131243216E07317071
chr7131238465131238519E07415288
chr7131238655131238765E07415478
chr7131239353131239833E07416176
chr7131239853131240138E07416676
chr7131240248131243216E07417071
chr7131239353131239833E08116176
chr7131239853131240138E08116676
chr7131238868131239008E08215691
chr7131239081131239308E08215904
chr7131239353131239833E08216176
chr7131239853131240138E08216676
chr7131240248131243216E08217071