rs4078204

Homo sapiens
G>A
MTMR12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0032 (964/29988,GnomAD)
A=0049 (1444/29118,TOPMED)
A=0039 (196/5008,1000G)
chr5:32275361 (GRCh38.p7) (5p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
231 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.32275361G>A
GRCh37.p13 chr 5NC_000005.9:g.32275467G>A

Gene: MTMR12, myotubularin related protein 12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MTMR12 transcript variant 1NM_001040446.2:c.N/AIntron Variant
MTMR12 transcript variant 2NM_001294343.1:c.N/AIntron Variant
MTMR12 transcript variant 3NM_001294344.1:c.N/AIntron Variant
MTMR12 transcript variant X3XM_005248313.3:c.N/AIntron Variant
MTMR12 transcript variant X1XM_011514057.1:c.N/AIntron Variant
MTMR12 transcript variant X2XM_011514058.2:c.N/AIntron Variant
MTMR12 transcript variant X4XM_011514059.1:c.N/AIntron Variant
MTMR12 transcript variant X6XM_011514060.1:c.N/AIntron Variant
MTMR12 transcript variant X5XM_017009589.1:c.N/AIntron Variant
MTMR12 transcript variant X7XM_017009590.1:c.N/AIntron Variant
MTMR12 transcript variant X8XM_017009591.1:c.N/AIntron Variant
MTMR12 transcript variant X9XM_017009592.1:c.N/AIntron Variant
MTMR12 transcript variant X10XM_017009593.1:c.N/AIntron Variant
MTMR12 transcript variant X9XM_017009594.1:c.N/AIntron Variant
MTMR12 transcript variant X12XM_017009595.1:c.N/AIntron Variant
MTMR12 transcript variant X10XM_017009596.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.859A=0.141
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.961A=0.039
1000GenomesSouth AsianSub978G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8724G=0.892A=0.108
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1618G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18506G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29988G=0.967A=0.032
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.950A=0.049
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs40782040.000128alcohol dependence20201924

eQTL of rs4078204 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 rs4078204 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 )
chr53223206932232444E067-43023
chr53223250532233252E067-42215
chr53223338032233578E067-41889
chr53223359232234499E067-40968
chr53223459232234772E067-40695
chr53223709332237149E067-38318
chr53223727032237328E067-38139
chr53227504932275761E0670
chr53227819132278381E0672724
chr53228338532283447E0677918
chr53228377932283852E0678312
chr53228392432284153E0678457
chr53228430432284371E0678837
chr53228449232284685E0679025
chr53228471132285168E0679244
chr53229534732295456E06719880
chr53229769732297825E06722230
chr53229791532298085E06722448
chr53229817632298596E06722709
chr53229980232299913E06724335
chr53229994932300019E06724482
chr53230011932300174E06724652
chr53230042032300481E06724953
chr53231048032310555E06735013
chr53231096832311034E06735501
chr53222547332225964E068-49503
chr53223206932232444E068-43023
chr53223250532233252E068-42215
chr53223338032233578E068-41889
chr53223359232234499E068-40968
chr53223459232234772E068-40695
chr53223709332237149E068-38318
chr53223727032237328E068-38139
chr53224116632241527E068-33940
chr53224159032241972E068-33495
chr53224211732242167E068-33300
chr53225183632251886E068-23581
chr53225211332252313E068-23154
chr53225501332255701E068-19766
chr53225576732256071E068-19396
chr53227623032276978E068763
chr53228338532283447E0687918
chr53228377932283852E0688312
chr53228392432284153E0688457
chr53228430432284371E0688837
chr53228449232284685E0689025
chr53228471132285168E0689244
chr53228565232285864E06810185
chr53228619732286247E06810730
chr53228752532287600E06812058
chr53229738932297464E06821922
chr53229753132297571E06822064
chr53229769732297825E06822230
chr53229791532298085E06822448
chr53229817632298596E06822709
chr53229980232299913E06824335
chr53229994932300019E06824482
chr53230011932300174E06824652
chr53230846332308517E06832996
chr53230907132309360E06833604
chr53230997632310164E06834509
chr53231048032310555E06835013
chr53223206932232444E069-43023
chr53223250532233252E069-42215
chr53223338032233578E069-41889
chr53223359232234499E069-40968
chr53223459232234772E069-40695
chr53223727032237328E069-38139
chr53224159032241972E069-33495
chr53227504932275761E0690
chr53227623032276978E069763
chr53228338532283447E0697918
chr53228377932283852E0698312
chr53228392432284153E0698457
chr53228430432284371E0698837
chr53228449232284685E0699025
chr53228471132285168E0699244
chr53228565232285864E06910185
chr53228619732286247E06910730
chr53228692432287173E06911457
chr53228752532287600E06912058
chr53228782632287932E06912359
chr53229534732295456E06919880
chr53229791532298085E06922448
chr53229817632298596E06922709
chr53223359232234499E070-40968
chr53223459232234772E070-40695
chr53225576732256071E070-19396
chr53227860832278816E0703141
chr53229791532298085E07022448
chr53229817632298596E07022709
chr53223206932232444E071-43023
chr53223250532233252E071-42215
chr53223338032233578E071-41889
chr53223359232234499E071-40968
chr53223459232234772E071-40695
chr53225183632251886E071-23581
chr53225211332252313E071-23154
chr53227504932275761E0710
chr53227784032277880E0712373
chr53227796832278112E0712501
chr53227819132278381E0712724
chr53228338532283447E0717918
chr53228377932283852E0718312
chr53228392432284153E0718457
chr53228430432284371E0718837
chr53228449232284685E0719025
chr53228471132285168E0719244
chr53228565232285864E07110185
chr53228619732286247E07110730
chr53228692432287173E07111457
chr53229791532298085E07122448
chr53229817632298596E07122709
chr53231096832311034E07135501
chr53223049432231059E072-44408
chr53223206932232444E072-43023
chr53223250532233252E072-42215
chr53223338032233578E072-41889
chr53223359232234499E072-40968
chr53223459232234772E072-40695
chr53227166332271713E072-3754
chr53227416132274316E072-1151
chr53227459732274673E072-794
chr53227469932274960E072-507
chr53227623032276978E072763
chr53227784032277880E0722373
chr53227796832278112E0722501
chr53227819132278381E0722724
chr53227860832278816E0723141
chr53228338532283447E0727918
chr53228377932283852E0728312
chr53228392432284153E0728457
chr53228430432284371E0728837
chr53228449232284685E0729025
chr53228471132285168E0729244
chr53228565232285864E07210185
chr53228692432287173E07211457
chr53228752532287600E07212058
chr53229791532298085E07222448
chr53229817632298596E07222709
chr53230484332304995E07229376
chr53230907132309360E07233604
chr53230997632310164E07234509
chr53231048032310555E07235013
chr53231096832311034E07235501
chr53223206932232444E073-43023
chr53223250532233252E073-42215
chr53223338032233578E073-41889
chr53223359232234499E073-40968
chr53223459232234772E073-40695
chr53223709332237149E073-38318
chr53223727032237328E073-38139
chr53224116632241527E073-33940
chr53225501332255701E073-19766
chr53225576732256071E073-19396
chr53227416132274316E073-1151
chr53227459732274673E073-794
chr53227469932274960E073-507
chr53227504932275761E0730
chr53227623032276978E073763
chr53227718432277596E0731717
chr53227784032277880E0732373
chr53227796832278112E0732501
chr53227819132278381E0732724
chr53227860832278816E0733141
chr53228338532283447E0737918
chr53228377932283852E0738312
chr53228392432284153E0738457
chr53228430432284371E0738837
chr53228449232284685E0739025
chr53228471132285168E0739244
chr53229738932297464E07321922
chr53229753132297571E07322064
chr53229769732297825E07322230
chr53229791532298085E07322448
chr53229817632298596E07322709
chr53229936032299767E07323893
chr53230277132303280E07327304
chr53230331432303368E07327847
chr53223206932232444E074-43023
chr53223250532233252E074-42215
chr53223338032233578E074-41889
chr53223359232234499E074-40968
chr53223459232234772E074-40695
chr53223709332237149E074-38318
chr53228338532283447E0747918
chr53228377932283852E0748312
chr53228392432284153E0748457
chr53228430432284371E0748837
chr53228449232284685E0749025
chr53228471132285168E0749244
chr53228692432287173E07411457
chr53230907132309360E07433604
chr53230997632310164E07434509
chr53223250532233252E081-42215
chr53224116632241527E081-33940
chr53224159032241972E081-33495
chr53224211732242167E081-33300
chr53224293132243120E081-32347
chr53224329632243370E081-32097
chr53225501332255701E081-19766
chr53225576732256071E081-19396
chr53226035932260556E081-14911
chr53226380532264347E081-11120
chr53226540132265587E081-9880
chr53226587832265933E081-9534
chr53229738932297464E08121922
chr53229753132297571E08122064
chr53229769732297825E08122230
chr53229791532298085E08122448
chr53229817632298596E08122709
chr53229936032299767E08123893
chr53229980232299913E08124335
chr53229994932300019E08124482
chr53230011932300174E08124652
chr53230042032300481E08124953
chr53230060832300672E08125141
chr53231048032310555E08135013
chr53231096832311034E08135501
chr53225576732256071E082-19396
chr53229738932297464E08221922
chr53229753132297571E08222064
chr53229769732297825E08222230
chr53229791532298085E08222448
chr53229817632298596E08222709
chr53229980232299913E08224335
chr53229994932300019E08224482
chr53230011932300174E08224652
chr53230042032300481E08224953
chr53230060832300672E08225141
chr53230090532300966E08225438










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr53231212832313703E06736661
chr53231371232313834E06738245
chr53231212832313703E06836661
chr53231371232313834E06838245
chr53231212832313703E06936661
chr53231371232313834E06938245
chr53231212832313703E07036661
chr53231371232313834E07038245
chr53231415132314243E07038684
chr53231212832313703E07136661
chr53231371232313834E07138245
chr53231212832313703E07236661
chr53231371232313834E07238245
chr53231212832313703E07336661
chr53231371232313834E07338245
chr53231415132314243E07338684
chr53231212832313703E07436661
chr53231371232313834E07438245
chr53231371232313834E08138245
chr53231212832313703E08236661
chr53231371232313834E08238245