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rs387907191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907191(C;T)
Make rs387907191(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position6611067
GeneNSUN2
is asnp
is mentioned by
dbSNPrs387907191
ebirs387907191
HLIrs387907191
Exacrs387907191
Varsomers387907191
Maprs387907191
PheGenIrs387907191
hapmaprs387907191
1000 genomesrs387907191
hgdprs387907191
ensemblrs387907191
gopubmedrs387907191
geneviewrs387907191
scholarrs387907191
googlers387907191
pharmgkbrs387907191
gwascentralrs387907191
openSNPrs387907191
23andMers387907191
23andMe allrs387907191
SNP Nexus

SNPshotrs387907191
SNPdbers387907191
MSV3drs387907191
GWAS Ctlgrs387907191
Max Magnitude0
ClinVar
Risk rs387907191(T;T)
Alt rs387907191(T;T)
Reference rs387907191(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene NSUN2
CLNDBN Mental retardation, autosomal recessive 5
Reversed 1
HGVS NC_000005.9:g.6611180G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024356.2,