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rs387907190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907190(C;T)
Make rs387907190(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position6620242
GeneNSUN2
is asnp
is mentioned by
dbSNPrs387907190
ebirs387907190
HLIrs387907190
Exacrs387907190
Varsomers387907190
Maprs387907190
PheGenIrs387907190
hapmaprs387907190
1000 genomesrs387907190
hgdprs387907190
ensemblrs387907190
gopubmedrs387907190
geneviewrs387907190
scholarrs387907190
googlers387907190
pharmgkbrs387907190
gwascentralrs387907190
openSNPrs387907190
23andMers387907190
23andMe allrs387907190
SNP Nexus

SNPshotrs387907190
SNPdbers387907190
MSV3drs387907190
GWAS Ctlgrs387907190
Max Magnitude0
ClinVar
Risk rs387907190(T;T)
Alt rs387907190(T;T)
Reference rs387907190(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene NSUN2
CLNDBN Mental retardation, autosomal recessive 5
Reversed 1
HGVS NC_000005.9:g.6620355G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024355.2,