rs12857770

Homo sapiens
C>T
TMEM255A : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0009 (192/20900,GnomAD)
T=0011 (42/3775,1000G)
T=0001 (2/3708,TWINSUK)
T=0000 (1/2889,ALSPAC)
chrX:120259745 (GRCh38.p7) (Xq24)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.120259745C>T
GRCh37.p13 chr X fix patch HG1442_PATCHNW_004070886.1:g.312175C>T
ZBTB33 RefSeqGeneNG_021334.1:g.13994C>T
GRCh37.p13 chr XNC_000023.10:g.119393600C>T

Gene: TMEM255A, transmembrane protein 255A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM255A transcript variant 1NM_017938.3:c.N/A3 Prime UTR Variant
TMEM255A transcript variant 2NM_001104544.1:c.N/A3 Prime UTR Variant
TMEM255A transcript variant 3NM_001104545.1:c.N/A3 Prime UTR Variant
TMEM255A transcript variant X1XM_017029619.1:c.N/AIntron Variant
TMEM255A transcript variant X2XR_001755706.1:n....XR_001755706.1:n.2259G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003C=0.960T=0.040
1000GenomesAmericanSub524C=1.000T=0.000
1000GenomesEast AsianSub764C=1.000T=0.000
1000GenomesEuropeSub766C=1.000T=0.000
1000GenomesGlobalStudy-wide3775C=0.989T=0.011
1000GenomesSouth AsianSub718C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub5863C=0.968T=0.032
The Genome Aggregation DatabaseAmericanSub617C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1033C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub13202C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide20900C=0.990T=0.009
The Genome Aggregation DatabaseOtherSub185C=0.990T=0.010
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs128577700.000466alcohol dependence20201924

eQTL of rs12857770 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 rs12857770 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 )
chrX284542285166E067-27009
chrX346631346723E06734456
chrX348712348843E06736537
chrX346423346554E06834248
chrX346631346723E06834456
chrX349206349515E06837031
chrX349562350206E06837387
chrX284542285166E069-27009
chrX309322309457E069-2718
chrX309575309735E069-2440
chrX309798309933E069-2242
chrX310044310405E069-1770
chrX346631346723E06934456
chrX348712348843E06936537
chrX349206349515E06937031
chrX349562350206E06937387
chrX345866346045E07033691
chrX346423346554E07034248
chrX284405284455E071-27720
chrX284542285166E071-27009
chrX292822292902E071-19273
chrX292913293062E071-19113
chrX309322309457E071-2718
chrX309575309735E071-2440
chrX309798309933E071-2242
chrX310044310405E071-1770
chrX310503310755E071-1420
chrX310969311189E071-986
chrX346631346723E07134456
chrX348712348843E07136537
chrX348939349032E07136764
chrX284405284455E072-27720
chrX284542285166E072-27009
chrX309575309735E072-2440
chrX309798309933E072-2242
chrX348712348843E07236537
chrX348939349032E07236764
chrX349206349515E07237031
chrX349562350206E07237387
chrX346423346554E07334248
chrX346631346723E07334456
chrX349206349515E07337031
chrX349562350206E07337387
chrX284405284455E074-27720
chrX284542285166E074-27009
chrX309575309735E074-2440
chrX309798309933E074-2242
chrX283706284311E081-27864
chrX284405284455E081-27720
chrX284542285166E081-27009
chrX345866346045E08233691










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chrX346903347215E06734728
chrX347263348707E06735088
chrX333692335807E06821517
chrX346903347215E06834728
chrX347263348707E06835088
chrX346903347215E06934728
chrX347263348707E06935088
chrX333692335807E07021517
chrX346903347215E07034728
chrX347263348707E07035088
chrX346903347215E07134728
chrX347263348707E07135088
chrX346903347215E07234728
chrX347263348707E07235088
chrX333692335807E07321517
chrX346903347215E07334728
chrX347263348707E07335088
chrX346903347215E07434728
chrX347263348707E07435088
chrX347263348707E08135088
chrX346903347215E08234728
chrX347263348707E08235088