rs12607636

Homo sapiens
G>A
CDH20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0450 (13485/29912,GnomAD)
A=0433 (12626/29118,TOPMED)
G==0460 (2305/5008,1000G)
A=0482 (1859/3854,ALSPAC)
A=0490 (1817/3708,TWINSUK)
chr18:61341069 (GRCh38.p7) (18q21.33)
ND
GWASdb2
1   publication(s)
See rs on genome
211 Enhancers around
72 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.61341069G>A
GRCh37.p13 chr 18NC_000018.9:g.59008302G>A

Gene: CDH20, cadherin 20(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CDH20 transcriptNM_031891.3:c.N/AIntron Variant
CDH20 transcript variant X2XR_001753186.1:n.N/AIntron Variant
CDH20 transcript variant X3XR_001753187.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.670A=0.330
1000GenomesAmericanSub694G=0.380A=0.620
1000GenomesEast AsianSub1008G=0.292A=0.708
1000GenomesEuropeSub1006G=0.505A=0.495
1000GenomesGlobalStudy-wide5008G=0.460A=0.540
1000GenomesSouth AsianSub978G=0.360A=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.518A=0.482
The Genome Aggregation DatabaseAfricanSub8708G=0.659A=0.341
The Genome Aggregation DatabaseAmericanSub834G=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1610G=0.307A=0.693
The Genome Aggregation DatabaseEuropeSub18458G=0.526A=0.473
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.549A=0.450
The Genome Aggregation DatabaseOtherSub302G=0.500A=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.566A=0.433
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.510A=0.490
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs126076360.000325nicotine dependence17158188

eQTL of rs12607636 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 rs12607636 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 )
chr185897582858975878E067-32424
chr185898991758990046E067-18256
chr185899091258990962E067-17340
chr185899129058991452E067-16850
chr185899601358996066E067-12236
chr185899614158996191E067-12111
chr185899629258996366E067-11936
chr185899658958996639E067-11663
chr185900497259005019E067-3283
chr185900751359007590E067-712
chr185900774159007803E067-499
chr185900949759009600E0671195
chr185900971259009762E0671410
chr185901555659015932E0677254
chr185901782259017877E0679520
chr185901792759018025E0679625
chr185901804259018094E0679740
chr185901812759018205E0679825
chr185901852559018583E06710223
chr185902793759028184E06719635
chr185902822459028321E06719922
chr185902837859028461E06720076
chr185903706159037152E06728759
chr185903845359038526E06730151
chr185903860659038656E06730304
chr185904721459047289E06738912
chr185904730759047409E06739005
chr185898991758990046E068-18256
chr185899091258990962E068-17340
chr185899129058991452E068-16850
chr185899629258996366E068-11936
chr185899658958996639E068-11663
chr185899715058997218E068-11084
chr185900589959005939E068-2363
chr185900949759009600E0681195
chr185900971259009762E0681410
chr185901759259017632E0689290
chr185901782259017877E0689520
chr185901792759018025E0689625
chr185901804259018094E0689740
chr185901812759018205E0689825
chr185901852559018583E06810223
chr185901941059019460E06811108
chr185901953959019616E06811237
chr185902332559023375E06815023
chr185902793759028184E06819635
chr185902822459028321E06819922
chr185902837859028461E06820076
chr185903250959032631E06824207
chr185904571759045769E06837415
chr185904721459047289E06838912
chr185904730759047409E06839005
chr185904970159049751E06841399
chr185905608059056176E06847778
chr185897517158975490E069-32812
chr185897582858975878E069-32424
chr185898991758990046E069-18256
chr185899091258990962E069-17340
chr185899129058991452E069-16850
chr185899601358996066E069-12236
chr185899614158996191E069-12111
chr185899629258996366E069-11936
chr185899658958996639E069-11663
chr185900589959005939E069-2363
chr185900949759009600E0691195
chr185900971259009762E0691410
chr185901067759010744E0692375
chr185901122559011285E0692923
chr185901555659015932E0697254
chr185901637559016510E0698073
chr185901792759018025E0699625
chr185901804259018094E0699740
chr185901812759018205E0699825
chr185901852559018583E06910223
chr185901941059019460E06911108
chr185901953959019616E06911237
chr185902000659020136E06911704
chr185902793759028184E06919635
chr185903706159037152E06928759
chr185903745259037569E06929150
chr185903845359038526E06930151
chr185903860659038656E06930304
chr185904571759045769E06937415
chr185904590259045962E06937600
chr185904721459047289E06938912
chr185904730759047409E06939005
chr185905794959058009E06949647
chr185897517158975490E071-32812
chr185897582858975878E071-32424
chr185899091258990962E071-17340
chr185900497259005019E071-3283
chr185900774159007803E071-499
chr185900949759009600E0711195
chr185900971259009762E0711410
chr185901555659015932E0717254
chr185901637559016510E0718073
chr185901782259017877E0719520
chr185901792759018025E0719625
chr185901804259018094E0719740
chr185901812759018205E0719825
chr185901852559018583E07110223
chr185901941059019460E07111108
chr185901953959019616E07111237
chr185902000659020136E07111704
chr185902822459028321E07119922
chr185902837859028461E07120076
chr185903250959032631E07124207
chr185904253659042590E07134234
chr185904260859042652E07134306
chr185904571759045769E07137415
chr185904590259045962E07137600
chr185904721459047289E07138912
chr185904730759047409E07139005
chr185905645059056866E07148148
chr185905689059056940E07148588
chr185905717559057266E07148873
chr185905733759057540E07149035
chr185905757459057637E07149272
chr185905777059057897E07149468
chr185905794959058009E07149647
chr185897517158975490E072-32812
chr185897582858975878E072-32424
chr185898991758990046E072-18256
chr185899091258990962E072-17340
chr185899129058991452E072-16850
chr185899601358996066E072-12236
chr185899614158996191E072-12111
chr185899629258996366E072-11936
chr185899658958996639E072-11663
chr185899715058997218E072-11084
chr185900949759009600E0721195
chr185900971259009762E0721410
chr185901812759018205E0729825
chr185901852559018583E07210223
chr185901941059019460E07211108
chr185901953959019616E07211237
chr185902793759028184E07219635
chr185902822459028321E07219922
chr185902837859028461E07220076
chr185903250959032631E07224207
chr185904571759045769E07237415
chr185904590259045962E07237600
chr185904721459047289E07238912
chr185898958058989904E073-18398
chr185898991758990046E073-18256
chr185899986658999990E073-8312
chr185900497259005019E073-3283
chr185900774159007803E073-499
chr185901941059019460E07311108
chr185901953959019616E07311237
chr185897582858975878E074-32424
chr185899091258990962E074-17340
chr185899601358996066E074-12236
chr185899614158996191E074-12111
chr185899629258996366E074-11936
chr185899658958996639E074-11663
chr185899715058997218E074-11084
chr185900497259005019E074-3283
chr185900589959005939E074-2363
chr185900751359007590E074-712
chr185900774159007803E074-499
chr185900949759009600E0741195
chr185900971259009762E0741410
chr185901067759010744E0742375
chr185901122559011285E0742923
chr185901251659012580E0744214
chr185901782259017877E0749520
chr185901792759018025E0749625
chr185901804259018094E0749740
chr185901812759018205E0749825
chr185901852559018583E07410223
chr185901941059019460E07411108
chr185901953959019616E07411237
chr185902000659020136E07411704
chr185902793759028184E07419635
chr185902822459028321E07419922
chr185902837859028461E07420076
chr185903250959032631E07424207
chr185903645259036492E07428150
chr185903706159037152E07428759
chr185903745259037569E07429150
chr185903845359038526E07430151
chr185903860659038656E07430304
chr185904034959040408E07432047
chr185904046859040508E07432166
chr185904072159040781E07432419
chr185904571759045769E07437415
chr185904590259045962E07437600
chr185904721459047289E07438912
chr185904730759047409E07439005
chr185905689059056940E07448588
chr185905717559057266E07448873
chr185905733759057540E07449035
chr185905757459057637E07449272
chr185905777059057897E07449468
chr185905794959058009E07449647
chr185895862158958671E081-49631
chr185895871658959160E081-49142
chr185895977958960519E081-47783
chr185896063258960682E081-47620
chr185896076858960877E081-47425
chr185900497259005019E081-3283
chr185905608059056176E08147778
chr185905645059056866E08148148
chr185905689059056940E08148588
chr185905717559057266E08148873
chr185905733759057540E08149035
chr185905757459057637E08149272
chr185905777059057897E08149468
chr185905794959058009E08149647
chr185905608059056176E08247778









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr185900025559002028E067-6274
chr185900216859002249E067-6053
chr185900235459002394E067-5908
chr185900241859002484E067-5818
chr185900253759002945E067-5357
chr185900299859003442E067-4860
chr185900349359003625E067-4677
chr185900373959003814E067-4488
chr185900398359004357E067-3945
chr185900025559002028E068-6274
chr185900216859002249E068-6053
chr185900235459002394E068-5908
chr185900241859002484E068-5818
chr185900253759002945E068-5357
chr185900299859003442E068-4860
chr185900349359003625E068-4677
chr185900373959003814E068-4488
chr185900398359004357E068-3945
chr185900438859004451E068-3851
chr185900025559002028E069-6274
chr185900216859002249E069-6053
chr185900235459002394E069-5908
chr185900241859002484E069-5818
chr185900253759002945E069-5357
chr185900299859003442E069-4860
chr185900349359003625E069-4677
chr185900373959003814E069-4488
chr185900398359004357E069-3945
chr185900438859004451E069-3851
chr185900025559002028E071-6274
chr185900216859002249E071-6053
chr185900235459002394E071-5908
chr185900241859002484E071-5818
chr185900253759002945E071-5357
chr185900299859003442E071-4860
chr185900349359003625E071-4677
chr185900373959003814E071-4488
chr185900398359004357E071-3945
chr185900438859004451E071-3851
chr185900025559002028E072-6274
chr185900216859002249E072-6053
chr185900235459002394E072-5908
chr185900241859002484E072-5818
chr185900253759002945E072-5357
chr185900299859003442E072-4860
chr185900349359003625E072-4677
chr185900373959003814E072-4488
chr185900398359004357E072-3945
chr185900438859004451E072-3851
chr185900025559002028E073-6274
chr185900216859002249E073-6053
chr185900235459002394E073-5908
chr185900241859002484E073-5818
chr185900253759002945E073-5357
chr185900299859003442E073-4860
chr185900349359003625E073-4677
chr185900373959003814E073-4488
chr185900398359004357E073-3945
chr185900438859004451E073-3851
chr185900025559002028E074-6274
chr185900216859002249E074-6053
chr185900235459002394E074-5908
chr185900241859002484E074-5818
chr185900253759002945E074-5357
chr185900299859003442E074-4860
chr185900349359003625E074-4677
chr185900373959003814E074-4488
chr185900025559002028E082-6274
chr185900235459002394E082-5908
chr185900241859002484E082-5818
chr185900253759002945E082-5357
chr185900299859003442E082-4860