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rs132630283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630283(C;C)
Make rs132630283(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103788485
GenePLP1
is asnp
is mentioned by
dbSNPrs132630283
ebirs132630283
HLIrs132630283
Exacrs132630283
Varsomers132630283
Maprs132630283
PheGenIrs132630283
hapmaprs132630283
1000 genomesrs132630283
hgdprs132630283
ensemblrs132630283
gopubmedrs132630283
geneviewrs132630283
scholarrs132630283
googlers132630283
pharmgkbrs132630283
gwascentralrs132630283
openSNPrs132630283
23andMers132630283
23andMe allrs132630283
SNP Nexus

SNPshotrs132630283
SNPdbers132630283
MSV3drs132630283
GWAS Ctlgrs132630283
Max Magnitude0
OMIM300401
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630283(C;C)
Alt rs132630283(C;C)
Reference rs132630283(T;T)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103043414T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011829.5,