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rs132630284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630284(C;C)
Make rs132630284(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787951
GenePLP1
is asnp
is mentioned by
dbSNPrs132630284
ebirs132630284
HLIrs132630284
Exacrs132630284
Varsomers132630284
Maprs132630284
PheGenIrs132630284
hapmaprs132630284
1000 genomesrs132630284
hgdprs132630284
ensemblrs132630284
gopubmedrs132630284
geneviewrs132630284
scholarrs132630284
googlers132630284
pharmgkbrs132630284
gwascentralrs132630284
openSNPrs132630284
23andMers132630284
23andMe allrs132630284
SNP Nexus

SNPshotrs132630284
SNPdbers132630284
MSV3drs132630284
GWAS Ctlgrs132630284
Max Magnitude0
OMIM300401
Desc
Variant0009
Relatedalso
ClinVar
Risk rs132630284(C;C)
Alt rs132630284(C;C)
Reference rs132630284(G;G)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103042880G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011830.5,