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rs132630290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630290(A;A)
Make rs132630290(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103776998
GenePLP1
is asnp
is mentioned by
dbSNPrs132630290
ebirs132630290
HLIrs132630290
Exacrs132630290
Varsomers132630290
Maprs132630290
PheGenIrs132630290
hapmaprs132630290
1000 genomesrs132630290
hgdprs132630290
ensemblrs132630290
gopubmedrs132630290
geneviewrs132630290
scholarrs132630290
googlers132630290
pharmgkbrs132630290
gwascentralrs132630290
openSNPrs132630290
23andMers132630290
23andMe allrs132630290
SNP Nexus

SNPshotrs132630290
SNPdbers132630290
MSV3drs132630290
GWAS Ctlgrs132630290
Max Magnitude0
OMIM300401
Desc
Variant0015
Relatedalso
ClinVar
Risk rs132630290(A;A)
Alt rs132630290(A;A)
Reference rs132630290(G;G)
Significance Pathogenic
Disease Pelizaeus-merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-merzbacher disease, mild
Reversed 0
HGVS NC_000023.10:g.103031926G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011836.2,