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rs132630281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630281(G;T)
Make rs132630281(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103788469
GenePLP1
is asnp
is mentioned by
dbSNPrs132630281
ebirs132630281
HLIrs132630281
Exacrs132630281
Varsomers132630281
Maprs132630281
PheGenIrs132630281
hapmaprs132630281
1000 genomesrs132630281
hgdprs132630281
ensemblrs132630281
gopubmedrs132630281
geneviewrs132630281
scholarrs132630281
googlers132630281
pharmgkbrs132630281
gwascentralrs132630281
openSNPrs132630281
23andMers132630281
23andMe allrs132630281
SNP Nexus

SNPshotrs132630281
SNPdbers132630281
MSV3drs132630281
GWAS Ctlgrs132630281
Max Magnitude0
OMIM300401
Desc
Variant0005
Relatedalso
ClinVar
Risk rs132630281(T;T)
Alt rs132630281(T;T)
Reference rs132630281(G;G)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103043398G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011826.5,