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rs132630285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630285(A;A)
Make rs132630285(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103786493
GenePLP1
is asnp
is mentioned by
dbSNPrs132630285
ebirs132630285
HLIrs132630285
Exacrs132630285
Varsomers132630285
Maprs132630285
PheGenIrs132630285
hapmaprs132630285
1000 genomesrs132630285
hgdprs132630285
ensemblrs132630285
gopubmedrs132630285
geneviewrs132630285
scholarrs132630285
googlers132630285
pharmgkbrs132630285
gwascentralrs132630285
openSNPrs132630285
23andMers132630285
23andMe allrs132630285
SNP Nexus

SNPshotrs132630285
SNPdbers132630285
MSV3drs132630285
GWAS Ctlgrs132630285
Max Magnitude0
OMIM300401
Desc
Variant0010
Relatedalso
ClinVar
Risk rs132630285(A;A)
Alt rs132630285(A;A)
Reference rs132630285(G;G)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103041422G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011831.5,