rs5942915

Homo sapiens
G>A
AMMECR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0384 (7605/19774,GnomAD)
G==0469 (1771/3775,1000G)
A=0396 (1470/3708,TWINSUK)
A=0399 (1152/2889,ALSPAC)
chrX:110305798 (GRCh38.p7) (Xq23)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.110305798G>A
GRCh37.p13 chr XNC_000023.10:g.109549026G>A
AMMECR1 RefSeqGeneNG_016469.1:g.139436C>T

Gene: AMMECR1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
AMMECR1 transcript variant 2NM_001025580.1:c.N/AIntron Variant
AMMECR1 transcript variant 3NM_001171689.1:c.N/AIntron Variant
AMMECR1 transcript variant 1NM_015365.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003G=0.724A=0.276
1000GenomesAmericanSub524G=0.450A=0.550
1000GenomesEast AsianSub764G=0.060A=0.940
1000GenomesEuropeSub766G=0.680A=0.320
1000GenomesGlobalStudy-wide3775G=0.469A=0.531
1000GenomesSouth AsianSub718G=0.350A=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889G=0.601A=0.399
The Genome Aggregation DatabaseAfricanSub5624G=0.744A=0.256
The Genome Aggregation DatabaseAmericanSub570G=0.450A=0.550
The Genome Aggregation DatabaseEast AsianSub990G=0.070A=0.930
The Genome Aggregation DatabaseEuropeSub12416G=0.606A=0.393
The Genome Aggregation DatabaseGlobalStudy-wide19774G=0.615A=0.384
The Genome Aggregation DatabaseOtherSub174G=0.710A=0.290
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.604A=0.396
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
rs59429157.31E-05alcohol dependence20201924

eQTL of rs5942915 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 rs5942915 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 )
chrX109511232109511324E067-37702
chrX109511486109511536E067-37490

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chrX109559974109562267E06710948
chrX109559722109559802E06810696
chrX109559878109559938E06810852
chrX109559974109562267E06810948
chrX109559974109562267E06910948
chrX109559298109559379E07010272
chrX109559581109559638E07010555
chrX109559651109559701E07010625
chrX109559722109559802E07010696
chrX109559878109559938E07010852
chrX109559974109562267E07010948
chrX109559722109559802E07110696
chrX109559878109559938E07110852
chrX109559974109562267E07110948
chrX109559722109559802E07210696
chrX109559878109559938E07210852
chrX109559974109562267E07210948
chrX109559974109562267E07310948
chrX109559722109559802E07410696
chrX109559878109559938E07410852
chrX109559974109562267E07410948
chrX109559722109559802E08110696
chrX109559878109559938E08110852
chrX109559974109562267E08110948
chrX109559298109559379E08210272
chrX109559581109559638E08210555
chrX109559651109559701E08210625
chrX109559722109559802E08210696
chrX109559878109559938E08210852
chrX109559974109562267E08210948