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rs132630292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630292(A;A)
Make rs132630292(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103786707
GenePLP1
is asnp
is mentioned by
dbSNPrs132630292
ebirs132630292
HLIrs132630292
Exacrs132630292
Varsomers132630292
Maprs132630292
PheGenIrs132630292
hapmaprs132630292
1000 genomesrs132630292
hgdprs132630292
ensemblrs132630292
gopubmedrs132630292
geneviewrs132630292
scholarrs132630292
googlers132630292
pharmgkbrs132630292
gwascentralrs132630292
openSNPrs132630292
23andMers132630292
23andMe allrs132630292
SNP Nexus

SNPshotrs132630292
SNPdbers132630292
MSV3drs132630292
GWAS Ctlgrs132630292
Max Magnitude0
OMIM300401
Desc
Variant0018
Relatedalso
ClinVar
Risk rs132630292(A;A)
Alt rs132630292(A;A)
Reference rs132630292(G;G)
Significance Pathogenic
Disease Pelizaeus-merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-merzbacher disease, atypical
Reversed 0
HGVS NC_000023.10:g.103041636G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011839.2,