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rs132630282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630282(A;C)
Make rs132630282(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787888
GenePLP1
is asnp
is mentioned by
dbSNPrs132630282
ebirs132630282
HLIrs132630282
Exacrs132630282
Varsomers132630282
Maprs132630282
PheGenIrs132630282
hapmaprs132630282
1000 genomesrs132630282
hgdprs132630282
ensemblrs132630282
gopubmedrs132630282
geneviewrs132630282
scholarrs132630282
googlers132630282
pharmgkbrs132630282
gwascentralrs132630282
openSNPrs132630282
23andMers132630282
23andMe allrs132630282
SNP Nexus

SNPshotrs132630282
SNPdbers132630282
MSV3drs132630282
GWAS Ctlgrs132630282
Max Magnitude0
OMIM300401
Desc
Variant0007
Relatedalso
ClinVar
Risk rs132630282(C;C)
Alt rs132630282(C;C)
Reference rs132630282(A;A)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103042817A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011828.10,