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rs132630286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630286(G;T)
Make rs132630286(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103788475
GenePLP1
is asnp
is mentioned by
dbSNPrs132630286
ebirs132630286
HLIrs132630286
Exacrs132630286
Varsomers132630286
Maprs132630286
PheGenIrs132630286
hapmaprs132630286
1000 genomesrs132630286
hgdprs132630286
ensemblrs132630286
gopubmedrs132630286
geneviewrs132630286
scholarrs132630286
googlers132630286
pharmgkbrs132630286
gwascentralrs132630286
openSNPrs132630286
23andMers132630286
23andMe allrs132630286
SNP Nexus

SNPshotrs132630286
SNPdbers132630286
MSV3drs132630286
GWAS Ctlgrs132630286
Max Magnitude0
OMIM300401
Desc
Variant0011
Relatedalso
ClinVar
Risk rs132630286(T;T)
Alt rs132630286(T;T)
Reference rs132630286(G;G)
Significance Pathogenic
Disease Pelizaeus-merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-merzbacher disease, connatal
Reversed 0
HGVS NC_000023.10:g.103043404G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011832.10,