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rs132630280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630280(C;T)
Make rs132630280(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787811
GenePLP1
is asnp
is mentioned by
dbSNPrs132630280
ebirs132630280
HLIrs132630280
Exacrs132630280
Varsomers132630280
Maprs132630280
PheGenIrs132630280
hapmaprs132630280
1000 genomesrs132630280
hgdprs132630280
ensemblrs132630280
gopubmedrs132630280
geneviewrs132630280
scholarrs132630280
googlers132630280
pharmgkbrs132630280
gwascentralrs132630280
openSNPrs132630280
23andMers132630280
23andMe allrs132630280
SNP Nexus

SNPshotrs132630280
SNPdbers132630280
MSV3drs132630280
GWAS Ctlgrs132630280
Max Magnitude0
OMIM300401
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630280(T;T)
Alt rs132630280(T;T)
Reference rs132630280(C;C)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103042740C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011825.5,