rs13106

Homo sapiens
G>A
MKRN2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0046 (1389/29978,GnomAD)
A=0068 (1980/29118,TOPMED)
A=0051 (253/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr3:12583081 (GRCh38.p7) (3p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.12583081G>A
GRCh37.p13 chr 3NC_000003.11:g.12624580G>A
RAF1 RefSeqGene LRG_413

Gene: MKRN2, makorin ring finger protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MKRN2 transcript variant 1NM_014160.4:c.N/A3 Prime UTR Variant
MKRN2 transcript variant 2NM_001271707.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.821A=0.179
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.949A=0.051
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8724G=0.843A=0.157
The Genome Aggregation DatabaseAmericanSub836G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18494G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29978G=0.953A=0.046
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.932A=0.068
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs131060.000796alcohol dependence20201924

eQTL of rs13106 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 rs13106 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 )
chr31259138812591580E067-33000
chr31260034512600543E067-24037
chr31260208212602195E067-22385
chr31261615612616673E067-7907
chr31262621112626261E0671631
chr31262639612626527E0671816
chr31262663412627202E0672054
chr31266376612663820E06739186
chr31267190312672211E06747323
chr31260034512600543E068-24037
chr31261615612616673E068-7907
chr31262368012623730E068-850
chr31262471612624789E068136
chr31262497912625054E068399
chr31262554612625609E068966
chr31262564512625725E0681065
chr31262621112626261E0681631
chr31262639612626527E0681816
chr31262663412627202E0682054
chr31266376612663820E06839186
chr31267077312670817E06846193
chr31267113012671405E06846550
chr31267449112674531E06849911
chr31259199912592079E069-32501
chr31260034512600543E069-24037
chr31260113512601201E069-23379
chr31260122012601317E069-23263
chr31260208212602195E069-22385
chr31260226712602360E069-22220
chr31260239612602578E069-22002
chr31262554612625609E069966
chr31262564512625725E0691065
chr31262621112626261E0691631
chr31262639612626527E0691816
chr31262663412627202E0692054
chr31266376612663820E06939186
chr31259712012597227E070-27353
chr31259723512597367E070-27213
chr31260034512600543E070-24037
chr31260113512601201E070-23379
chr31260122012601317E070-23263
chr31261566512615956E070-8624
chr31261615612616673E070-7907
chr31261703612617086E070-7494
chr31259138812591580E071-33000
chr31260113512601201E071-23379
chr31260122012601317E071-23263
chr31262554612625609E071966
chr31262564512625725E0711065
chr31262621112626261E0711631
chr31262639612626527E0711816
chr31262663412627202E0712054
chr31266376612663820E07139186
chr31267077312670817E07146193
chr31267113012671405E07146550
chr31260113512601201E072-23379
chr31260122012601317E072-23263
chr31260239612602578E072-22002
chr31261034212610543E072-14037
chr31261566512615956E072-8624
chr31261615612616673E072-7907
chr31262621112626261E0721631
chr31262639612626527E0721816
chr31262663412627202E0722054
chr31266289412662958E07238314
chr31267449112674531E07249911
chr31259723512597367E073-27213
chr31260034512600543E073-24037
chr31260113512601201E073-23379
chr31260122012601317E073-23263
chr31260208212602195E073-22385
chr31262554612625609E073966
chr31262564512625725E0731065
chr31262621112626261E0731631
chr31262639612626527E0731816
chr31262663412627202E0732054
chr31264270212642862E07318122
chr31266289412662958E07338314
chr31266710012667503E07342520
chr31267113012671405E07346550
chr31259199912592079E074-32501
chr31260034512600543E074-24037
chr31260113512601201E074-23379
chr31260122012601317E074-23263
chr31260226712602360E074-22220
chr31261566512615956E074-8624
chr31261615612616673E074-7907
chr31262471612624789E074136
chr31262497912625054E074399
chr31262554612625609E074966
chr31262564512625725E0741065
chr31262621112626261E0741631
chr31262639612626527E0741816
chr31262663412627202E0742054
chr31266376612663820E07439186
chr31267077312670817E07446193
chr31267113012671405E07446550
chr31259723512597367E081-27213
chr31260034512600543E081-24037
chr31260113512601201E081-23379
chr31260122012601317E081-23263
chr31262879812628899E0814218
chr31262898112629145E0814401
chr31262920812629296E0814628
chr31262963912629802E0815059
chr31259712012597227E082-27353
chr31259723512597367E082-27213










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31259515812595945E067-28635
chr31259766512597752E067-26828
chr31259789312599967E067-24613
chr31259515812595945E068-28635
chr31259766512597752E068-26828
chr31259789312599967E068-24613
chr31259766512597752E069-26828
chr31259789312599967E069-24613
chr31259515812595945E070-28635
chr31259766512597752E070-26828
chr31259789312599967E070-24613
chr31259515812595945E071-28635
chr31259766512597752E071-26828
chr31259789312599967E071-24613
chr31259515812595945E072-28635
chr31259766512597752E072-26828
chr31259789312599967E072-24613
chr31259766512597752E073-26828
chr31259789312599967E073-24613
chr31259515812595945E074-28635
chr31259766512597752E074-26828
chr31259789312599967E074-24613
chr31259515812595945E081-28635
chr31259766512597752E081-26828
chr31259789312599967E081-24613
chr31259515812595945E082-28635
chr31259766512597752E082-26828
chr31259789312599967E082-24613