rs3751151

Homo sapiens
T>A
C12orf43 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0274 (33317/121342,ExAC)
A=0316 (9466/29906,GnomAD)
A=0288 (8393/29118,TOPMED)
T==0314 (4091/13006,GO-ESP)
A=0259 (1295/5008,1000G)
A=0324 (1250/3854,ALSPAC)
A=0328 (1215/3708,TWINSUK)
chr12:121004396 (GRCh38.p7) (12q24.31)
AD
GWASdb2
2   publication(s)
See rs on genome
22 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.121004396T>A
GRCh37.p13 chr 12NC_000012.11:g.121442199T>A
HNF1A RefSeqGene LRG_522

Gene: C12orf43, chromosome 12 open reading frame 43(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C12orf43 transcript variant 4NM_001286195.1:c....NM_001286195.1:c.516A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform dNP_001273124.1:p....NP_001273124.1:p.Thr172=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 2NM_001286192.1:c....NM_001286192.1:c.549A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform bNP_001273121.1:p....NP_001273121.1:p.Thr183=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 7NM_001286198.1:c....NM_001286198.1:c.423A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform gNP_001273127.1:p....NP_001273127.1:p.Thr141=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 6NM_001286197.1:c....NM_001286197.1:c.450A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform fNP_001273126.1:p....NP_001273126.1:p.Thr150=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 1NM_001286191.1:c....NM_001286191.1:c.639A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform aNP_001273120.1:p....NP_001273120.1:p.Thr213=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 3NM_022895.2:c.546A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform cNP_075046.1:p.Thr...NP_075046.1:p.Thr182=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 5NM_001286196.1:c....NM_001286196.1:c.513A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform eNP_001273125.1:p....NP_001273125.1:p.Thr171=T [Thr]> T [Thr]Synonymous Variant
C12orf43 transcript variant 8NR_104409.1:n.587A>TA>TNon Coding Transcript Variant
C12orf43 transcript variant X1XM_017019829.1:c....XM_017019829.1:c.420A>TT [ACA]> T [ACT]Coding Sequence Variant
uncharacterized protein C12orf43 isoform X1XP_016875318.1:p....XP_016875318.1:p.Thr140=T [Thr]> T [Thr]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.690A=0.310
1000GenomesAmericanSub694T=0.800A=0.200
1000GenomesEast AsianSub1008T=0.725A=0.275
1000GenomesEuropeSub1006T=0.676A=0.324
1000GenomesGlobalStudy-wide5008T=0.741A=0.259
1000GenomesSouth AsianSub978T=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.676A=0.324
The Exome Aggregation ConsortiumAmericanSub21982T=0.782A=0.217
The Exome Aggregation ConsortiumAsianSub25138T=0.823A=0.176
The Exome Aggregation ConsortiumEuropeSub73318T=0.674A=0.325
The Exome Aggregation ConsortiumGlobalStudy-wide121342T=0.725A=0.274
The Exome Aggregation ConsortiumOtherSub904T=0.740A=0.260
The Genome Aggregation DatabaseAfricanSub8710T=0.682A=0.318
The Genome Aggregation DatabaseAmericanSub836T=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1614T=0.750A=0.250
The Genome Aggregation DatabaseEuropeSub18444T=0.670A=0.329
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.683A=0.316
The Genome Aggregation DatabaseOtherSub302T=0.750A=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.711A=0.288
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.672A=0.328
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
20682687Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.Jablonski KADiabetes

P-Value

SNP ID p-value Traits Study
rs37511510.000274alcohol dependence21314694

eQTL of rs3751151 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 rs3751151 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 )
chr12121436621121436738E067-5461
chr12121452955121453060E06710756
chr12121453089121453262E06710890
chr12121453301121453383E06711102
chr12121452955121453060E06810756
chr12121453089121453262E06810890
chr12121453301121453383E06811102
chr12121474472121474979E06832273
chr12121452955121453060E06910756
chr12121453089121453262E06910890
chr12121453301121453383E06911102
chr12121453089121453262E07010890
chr12121453089121453262E07110890
chr12121453301121453383E07111102
chr12121453089121453262E07210890
chr12121453301121453383E07211102
chr12121452955121453060E07410756
chr12121453089121453262E07410890
chr12121453301121453383E07411102
chr12121452955121453060E08110756
chr12121453089121453262E08110890
chr12121453301121453383E08111102








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12121453745121454645E06711546
chr12121475885121477328E06733686
chr12121453745121454645E06811546
chr12121475885121477328E06833686
chr12121453745121454645E06911546
chr12121475885121477328E06933686
chr12121453745121454645E07011546
chr12121453745121454645E07111546
chr12121475885121477328E07133686
chr12121453745121454645E07211546
chr12121475885121477328E07233686
chr12121453745121454645E07311546
chr12121475885121477328E07333686
chr12121453745121454645E07411546
chr12121475885121477328E07433686
chr12121453745121454645E08111546
chr12121453745121454645E08211546