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rs132630278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630278(C;T)
Make rs132630278(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103788460
GenePLP1
is asnp
is mentioned by
dbSNPrs132630278
ebirs132630278
HLIrs132630278
Exacrs132630278
Varsomers132630278
Maprs132630278
PheGenIrs132630278
hapmaprs132630278
1000 genomesrs132630278
hgdprs132630278
ensemblrs132630278
gopubmedrs132630278
geneviewrs132630278
scholarrs132630278
googlers132630278
pharmgkbrs132630278
gwascentralrs132630278
openSNPrs132630278
23andMers132630278
23andMe allrs132630278
SNP Nexus

SNPshotrs132630278
SNPdbers132630278
MSV3drs132630278
GWAS Ctlgrs132630278
Max Magnitude0
OMIM300401
Desc
Variant0001
Relatedalso
ClinVar
Risk rs132630278(T;T)
Alt rs132630278(T;T)
Reference rs132630278(C;C)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease not provided
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease not provided
Reversed 0
HGVS NC_000023.10:g.103043389C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011822.5, RCV000079100.4,