rs17080911

Homo sapiens
C>A
MAN1A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0017 (511/29986,GnomAD)
A=0023 (696/29118,TOPMED)
A=0015 (75/5008,1000G)
chr6:119248936 (GRCh38.p7) (6q22.31)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.119248936C>A
GRCh37.p13 chr 6NC_000006.11:g.119570101C>A

Gene: MAN1A1, mannosidase alpha class 1A member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAN1A1 transcriptNM_005907.3:c.N/AIntron Variant
MAN1A1 transcript variant X1XM_005266986.4:c.N/AIntron Variant
MAN1A1 transcript variant X2XM_011535833.2:c.N/AIntron Variant
MAN1A1 transcript variant X3XM_011535834.2:c.N/AIntron Variant
MAN1A1 transcript variant X4XR_001743420.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.945A=0.055
1000GenomesAmericanSub694C=1.000A=0.000
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=1.000A=0.000
1000GenomesGlobalStudy-wide5008C=0.985A=0.015
1000GenomesSouth AsianSub978C=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8718C=0.942A=0.058
The Genome Aggregation DatabaseAmericanSub838C=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1622C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18506C=1.000A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.983A=0.017
The Genome Aggregation DatabaseOtherSub302C=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.976A=0.023
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
rs170809110.000348alcohol dependence20201924

eQTL of rs17080911 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 rs17080911 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 )
chr6119562324119562592E068-7509
chr6119617301119617435E06847200
chr6119602747119602801E07232646
chr6119562324119562592E073-7509