rs7807320

Homo sapiens
G>T
PODXL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0229 (6853/29916,GnomAD)
T=0263 (7678/29118,TOPMED)
T=0236 (1180/5008,1000G)
T=0203 (781/3854,ALSPAC)
T=0199 (739/3708,TWINSUK)
chr7:131542152 (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.131542152G>T
GRCh37.p13 chr 7NC_000007.13:g.131226911G>T
PODXL RefSeqGeneNG_042104.1:g.19466C>A

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
1000GenomesAfricanSub1322G=0.647T=0.353
1000GenomesAmericanSub694G=0.820T=0.180
1000GenomesEast AsianSub1008G=0.942T=0.058
1000GenomesEuropeSub1006G=0.764T=0.236
1000GenomesGlobalStudy-wide5008G=0.764T=0.236
1000GenomesSouth AsianSub978G=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.797T=0.203
The Genome Aggregation DatabaseAfricanSub8698G=0.663T=0.337
The Genome Aggregation DatabaseAmericanSub838G=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1620G=0.954T=0.046
The Genome Aggregation DatabaseEuropeSub18458G=0.803T=0.196
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.770T=0.229
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.736T=0.263
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.801T=0.199
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
rs78073200.000102alcohol dependence21314694

eQTL of rs7807320 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 rs7807320 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 )
chr7131177471131177640E067-49271
chr7131177808131177931E067-48980
chr7131178144131178282E067-48629
chr7131178315131178928E067-47983
chr7131186871131188447E067-38464
chr7131188534131188666E067-38245
chr7131188695131188783E067-38128
chr7131188811131188914E067-37997
chr7131188951131189351E067-37560
chr7131189368131189547E067-37364
chr7131192501131193106E067-33805
chr7131193132131193236E067-33675
chr7131198047131198173E067-28738
chr7131198180131198861E067-28050
chr7131223549131223616E067-3295
chr7131223637131223826E067-3085
chr7131223853131223929E067-2982
chr7131178144131178282E068-48629
chr7131178315131178928E068-47983
chr7131183799131184066E068-42845
chr7131184182131184256E068-42655
chr7131184342131184392E068-42519
chr7131186871131188447E068-38464
chr7131188534131188666E068-38245
chr7131188695131188783E068-38128
chr7131188811131188914E068-37997
chr7131188951131189351E068-37560
chr7131198180131198861E068-28050
chr7131207089131207299E068-19612
chr7131207331131207690E068-19221
chr7131207824131207904E068-19007
chr7131207993131208037E068-18874
chr7131223549131223616E068-3295
chr7131223637131223826E068-3085
chr7131223853131223929E068-2982
chr7131229445131230340E0682534
chr7131230491131230593E0683580
chr7131230768131231233E0683857
chr7131272344131272404E06845433
chr7131272522131272617E06845611
chr7131178144131178282E069-48629
chr7131178315131178928E069-47983
chr7131186871131188447E069-38464
chr7131188534131188666E069-38245
chr7131188695131188783E069-38128
chr7131188811131188914E069-37997
chr7131188951131189351E069-37560
chr7131189368131189547E069-37364
chr7131189601131189725E069-37186
chr7131192501131193106E069-33805
chr7131198047131198173E069-28738
chr7131198180131198861E069-28050
chr7131207331131207690E069-19221
chr7131207721131207773E069-19138
chr7131222772131222865E069-4046
chr7131222885131222935E069-3976
chr7131223152131223546E069-3365
chr7131223549131223616E069-3295
chr7131223637131223826E069-3085
chr7131223853131223929E069-2982
chr7131224002131224083E069-2828
chr7131224157131224207E069-2704
chr7131265878131266924E06938967
chr7131177808131177931E070-48980
chr7131178144131178282E070-48629
chr7131178315131178928E070-47983
chr7131179360131179404E070-47507
chr7131198180131198861E070-28050
chr7131222772131222865E070-4046
chr7131222885131222935E070-3976
chr7131223152131223546E070-3365
chr7131223549131223616E070-3295
chr7131223637131223826E070-3085
chr7131177808131177931E071-48980
chr7131178144131178282E071-48629
chr7131178315131178928E071-47983
chr7131180025131180188E071-46723
chr7131180526131180634E071-46277
chr7131186871131188447E071-38464
chr7131188534131188666E071-38245
chr7131188695131188783E071-38128
chr7131188811131188914E071-37997
chr7131188951131189351E071-37560
chr7131192501131193106E071-33805
chr7131198180131198861E071-28050
chr7131207089131207299E071-19612
chr7131207331131207690E071-19221
chr7131221175131221479E071-5432
chr7131223152131223546E071-3365
chr7131223549131223616E071-3295
chr7131223637131223826E071-3085
chr7131223853131223929E071-2982
chr7131224002131224083E071-2828
chr7131224157131224207E071-2704
chr7131227049131227162E071138
chr7131227516131227566E071605
chr7131227607131227702E071696
chr7131229050131229196E0712139
chr7131178144131178282E072-48629
chr7131178315131178928E072-47983
chr7131186871131188447E072-38464
chr7131188534131188666E072-38245
chr7131188695131188783E072-38128
chr7131188811131188914E072-37997
chr7131188951131189351E072-37560
chr7131189368131189547E072-37364
chr7131192501131193106E072-33805
chr7131193132131193236E072-33675
chr7131193312131193437E072-33474
chr7131193635131194048E072-32863
chr7131194123131194177E072-32734
chr7131198047131198173E072-28738
chr7131198180131198861E072-28050
chr7131223549131223616E072-3295
chr7131223637131223826E072-3085
chr7131223853131223929E072-2982
chr7131229445131230340E0722534
chr7131178144131178282E073-48629
chr7131178315131178928E073-47983
chr7131186871131188447E073-38464
chr7131188534131188666E073-38245
chr7131188695131188783E073-38128
chr7131188811131188914E073-37997
chr7131188951131189351E073-37560
chr7131192501131193106E073-33805
chr7131193132131193236E073-33675
chr7131198180131198861E073-28050
chr7131223152131223546E073-3365
chr7131223549131223616E073-3295
chr7131223637131223826E073-3085
chr7131223853131223929E073-2982
chr7131224002131224083E073-2828
chr7131224157131224207E073-2704
chr7131224427131224549E073-2362
chr7131224589131224785E073-2126
chr7131224839131224930E073-1981
chr7131224972131225022E073-1889
chr7131225063131225253E073-1658
chr7131225290131225982E073-929
chr7131265878131266924E07338967
chr7131270983131271476E07344072
chr7131271531131271667E07344620
chr7131271674131271734E07344763
chr7131271793131271846E07344882
chr7131178144131178282E074-48629
chr7131178315131178928E074-47983
chr7131186871131188447E074-38464
chr7131188534131188666E074-38245
chr7131188695131188783E074-38128
chr7131188811131188914E074-37997
chr7131188951131189351E074-37560
chr7131192501131193106E074-33805
chr7131193132131193236E074-33675
chr7131198047131198173E074-28738
chr7131198180131198861E074-28050
chr7131207089131207299E074-19612
chr7131207331131207690E074-19221
chr7131222572131222756E074-4155
chr7131222772131222865E074-4046
chr7131222885131222935E074-3976
chr7131223152131223546E074-3365
chr7131223549131223616E074-3295
chr7131223637131223826E074-3085
chr7131265878131266924E07438967
chr7131178144131178282E081-48629
chr7131178315131178928E081-47983
chr7131198047131198173E081-28738
chr7131208939131209112E081-17799
chr7131209211131209382E081-17529
chr7131223549131223616E081-3295
chr7131223637131223826E081-3085
chr7131223853131223929E081-2982
chr7131235436131235714E0818525
chr7131235754131235991E0818843
chr7131236018131236175E0819107
chr7131236287131236395E0819376
chr7131243388131243446E08116477
chr7131243489131243838E08116578
chr7131271531131271667E08144620
chr7131198047131198173E082-28738
chr7131209211131209382E082-17529
chr7131236287131236395E0829376
chr7131243388131243446E08216477
chr7131243489131243838E08216578










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7131238655131238765E06711744
chr7131238868131239008E06711957
chr7131239081131239308E06712170
chr7131239353131239833E06712442
chr7131239853131240138E06712942
chr7131240248131243216E06713337
chr7131238655131238765E06811744
chr7131238868131239008E06811957
chr7131239081131239308E06812170
chr7131239353131239833E06812442
chr7131239853131240138E06812942
chr7131240248131243216E06813337
chr7131239353131239833E06912442
chr7131239853131240138E06912942
chr7131240248131243216E06913337
chr7131239353131239833E07012442
chr7131240248131243216E07013337
chr7131238655131238765E07111744
chr7131238868131239008E07111957
chr7131239081131239308E07112170
chr7131239353131239833E07112442
chr7131239853131240138E07112942
chr7131240248131243216E07113337
chr7131238868131239008E07211957
chr7131239081131239308E07212170
chr7131239353131239833E07212442
chr7131239853131240138E07212942
chr7131240248131243216E07213337
chr7131238465131238519E07311554
chr7131238655131238765E07311744
chr7131238868131239008E07311957
chr7131239081131239308E07312170
chr7131239353131239833E07312442
chr7131239853131240138E07312942
chr7131240248131243216E07313337
chr7131238465131238519E07411554
chr7131238655131238765E07411744
chr7131239353131239833E07412442
chr7131239853131240138E07412942
chr7131240248131243216E07413337
chr7131239353131239833E08112442
chr7131239853131240138E08112942
chr7131238868131239008E08211957
chr7131239081131239308E08212170
chr7131239353131239833E08212442
chr7131239853131240138E08212942
chr7131240248131243216E08213337