rs2217938

Homo sapiens
A>G
MANF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0078 (2353/29956,GnomAD)
G=0095 (2792/29118,TOPMED)
G=0156 (783/5008,1000G)
G=0020 (77/3854,ALSPAC)
G=0015 (54/3708,TWINSUK)
chr3:51388243 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51388243A>G
GRCh37.p13 chr 3 fix patch HG186_PATCHNW_003315910.1:g.9566A>G
MANF RefSeqGeneNG_012652.3:g.7972A>G
GRCh37.p13 chr 3NC_000003.11:g.51425674A>G

Gene: MANF, mesencephalic astrocyte derived neurotrophic factor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MANF transcriptNM_006010.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.853G=0.147
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.649G=0.351
1000GenomesEuropeSub1006A=0.980G=0.020
1000GenomesGlobalStudy-wide5008A=0.844G=0.156
1000GenomesSouth AsianSub978A=0.960G=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.980G=0.020
The Genome Aggregation DatabaseAfricanSub8706A=0.878G=0.122
The Genome Aggregation DatabaseAmericanSub838A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1618A=0.661G=0.339
The Genome Aggregation DatabaseEuropeSub18492A=0.976G=0.023
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.921G=0.078
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.904G=0.095
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.985G=0.015
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
rs22179380.00013alcohol dependence20201924

eQTL of rs2217938 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 rs2217938 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.