rs2304512

Homo sapiens
T>C
MANF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0069 (2081/29940,GnomAD)
C=0083 (2431/29118,TOPMED)
C=0147 (738/5008,1000G)
C=0019 (75/3854,ALSPAC)
C=0014 (53/3708,TWINSUK)
chr3:51388050 (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.51388050T>C
GRCh37.p13 chr 3 fix patch HG186_PATCHNW_003315910.1:g.9373T>C
MANF RefSeqGeneNG_012652.3:g.7779T>C
GRCh37.p13 chr 3NC_000003.11:g.51425481T>C

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
1000GenomesAfricanSub1322T=0.885C=0.115
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.649C=0.351
1000GenomesEuropeSub1006T=0.980C=0.020
1000GenomesGlobalStudy-wide5008T=0.853C=0.147
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.981C=0.019
The Genome Aggregation DatabaseAfricanSub8714T=0.908C=0.092
The Genome Aggregation DatabaseAmericanSub834T=0.650C=0.350
The Genome Aggregation DatabaseEast AsianSub1614T=0.660C=0.340
The Genome Aggregation DatabaseEuropeSub18476T=0.976C=0.023
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.930C=0.069
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.916C=0.083
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.986C=0.014
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
rs23045120.000126alcohol dependence20201924

eQTL of rs2304512 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 rs2304512 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.