rs12635655

Homo sapiens
C>A / C>T
MCF2L2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0069 (2077/29978,GnomAD)
T=0062 (1823/29118,TOPMED)
T=0078 (389/5008,1000G)
T=0066 (255/3854,ALSPAC)
T=0061 (228/3708,TWINSUK)
chr3:183378194 (GRCh38.p7) (3q27.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
33 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.183378194C>A
GRCh38.p7 chr 3NC_000003.12:g.183378194C>T
GRCh37.p13 chr 3NC_000003.11:g.183095982C>A
GRCh37.p13 chr 3NC_000003.11:g.183095982C>T

Gene: MCF2L2, MCF.2 cell line derived transforming sequence-like 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MCF2L2 transcriptNM_015078.3:c.N/AIntron Variant
MCF2L2 transcript variant X1XM_017005943.1:c.N/AIntron Variant
MCF2L2 transcript variant X2XM_017005944.1:c.N/AIntron Variant
MCF2L2 transcript variant X3XM_017005945.1:c.N/AIntron Variant
MCF2L2 transcript variant X4XM_017005946.1:c.N/AIntron Variant
MCF2L2 transcript variant X5XM_011512585.2:c.N/AGenic Upstream Transcript Variant
MCF2L2 transcript variant X6XM_011512586.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.932T=0.068
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.906T=0.094
1000GenomesEuropeSub1006C=0.921T=0.079
1000GenomesGlobalStudy-wide5008C=0.922T=0.078
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.934T=0.066
The Genome Aggregation DatabaseAfricanSub8722C=0.930T=0.070
The Genome Aggregation DatabaseAmericanSub838C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1622C=0.916T=0.084
The Genome Aggregation DatabaseEuropeSub18496C=0.931T=0.068
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.930T=0.069
The Genome Aggregation DatabaseOtherSub300C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.937T=0.062
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.939T=0.061
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
rs126356550.00058alcohol dependence20201924

eQTL of rs12635655 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 rs12635655 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 )
chr37636312076363170E08128447
chr37637684476376982E08142171

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr37635969376360683E06725020
chr37636077476360886E06726101
chr37635928576359594E06824612
chr37635969376360683E06825020
chr37636077476360886E06826101
chr37636090876361490E06826235
chr37636165976361718E06826986
chr37636181276361879E06827139
chr37636195976362059E06827286
chr37635969376360683E06925020
chr37636077476360886E06926101
chr37636090876361490E06926235
chr37636165976361718E06926986
chr37636077476360886E07026101
chr37635969376360683E07125020
chr37635969376360683E07225020
chr37636077476360886E07226101
chr37636090876361490E07226235
chr37636165976361718E07226986
chr37636181276361879E07227139
chr37636195976362059E07227286
chr37635928576359594E07324612
chr37635969376360683E07325020
chr37636077476360886E07326101
chr37636090876361490E07326235
chr37635969376360683E08125020
chr37636077476360886E08126101
chr37636090876361490E08126235
chr37635969376360683E08225020
chr37636077476360886E08226101
chr37636090876361490E08226235
chr37636165976361718E08226986
chr37636181276361879E08227139