NSUN2, NOP2/Sun RNA methyltransferase 2, 54888

N. diseases: 173; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776908
rs587776908
Entrez Id: 54888;255167
Gene Symbol: NSUN2;LINC01018
NSUN2;LINC01018
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.800 GeneticVariation UNIPROT Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 22541562 2012
dbSNP: rs587776908
rs587776908
Entrez Id: 54888;255167
Gene Symbol: NSUN2;LINC01018
NSUN2;LINC01018
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.800 GeneticVariation UNIPROT Mutations in NSUN2 cause autosomal-recessive intellectual disability. 22541559 2012
dbSNP: rs587776908
rs587776908
Entrez Id: 54888;255167
Gene Symbol: NSUN2;LINC01018
NSUN2;LINC01018
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1560982564
rs1560982564
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387907190
rs387907190
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907191
rs387907191
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
CUI: C1970199
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs248793
rs248793
Entrez Id: 6715;54888
Gene Symbol: SRD5A1;NSUN2
SRD5A1;NSUN2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		0.020 GeneticVariation BEFREE We previously reported that a common nonsynonymous polymorphism, AKR1C3 2 in the gene encoding the enzyme 3α-HSD2/17β-HSD5, and a synonymous single nucleotide polymorphism (SNP), rs248793, in SRD5A1, which encodes 5α-reductase, were associated with alcohol dependence (AD). 24838369 2014
dbSNP: rs248793
rs248793
Entrez Id: 6715;54888
Gene Symbol: SRD5A1;NSUN2
SRD5A1;NSUN2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		0.020 GeneticVariation BEFREE The minor allele for both SNPs was more common among controls than subjects with AD: SRD5A1 rs248793 C-allele (χ(2)(1) = 7.6, p = 0.006) and AKR1C3 rs12529 G-allele (χ(2)(1) = 14.6, p = 0.0001). 21323680 2011