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rs132630293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630293(C;T)
Make rs132630293(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103789361
GenePLP1
is asnp
is mentioned by
dbSNPrs132630293
ebirs132630293
HLIrs132630293
Exacrs132630293
Varsomers132630293
Maprs132630293
PheGenIrs132630293
hapmaprs132630293
1000 genomesrs132630293
hgdprs132630293
ensemblrs132630293
gopubmedrs132630293
geneviewrs132630293
scholarrs132630293
googlers132630293
pharmgkbrs132630293
gwascentralrs132630293
openSNPrs132630293
23andMers132630293
23andMe allrs132630293
SNP Nexus

SNPshotrs132630293
SNPdbers132630293
MSV3drs132630293
GWAS Ctlgrs132630293
Merged fromRs28936080
Max Magnitude0
OMIM300401
Desc
Variant0019
Relatedalso
ClinVar
Risk rs132630293(T;T)
Alt rs132630293(T;T)
Reference rs132630293(C;C)
Significance Pathogenic
Disease Pelizaeus-merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-merzbacher disease, connatal
Reversed 0
HGVS NC_000023.10:g.103044290C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011840.10,