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rs132630289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630289(C;T)
Make rs132630289(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103785705
GenePLP1
is asnp
is mentioned by
dbSNPrs132630289
ebirs132630289
HLIrs132630289
Exacrs132630289
Varsomers132630289
Maprs132630289
PheGenIrs132630289
hapmaprs132630289
1000 genomesrs132630289
hgdprs132630289
ensemblrs132630289
gopubmedrs132630289
geneviewrs132630289
scholarrs132630289
googlers132630289
pharmgkbrs132630289
gwascentralrs132630289
openSNPrs132630289
23andMers132630289
23andMe allrs132630289
SNP Nexus

SNPshotrs132630289
SNPdbers132630289
MSV3drs132630289
GWAS Ctlgrs132630289
Max Magnitude0
OMIM300401
Desc
Variant0014
Relatedalso
ClinVar
Risk rs132630289(T;T)
Alt rs132630289(T;T)
Reference rs132630289(C;C)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103040634C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011835.5,