Have questions? Visit https://www.reddit.com/r/SNPedia

rs132630296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630296(G;T)
Make rs132630296(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103785746
GenePLP1
is asnp
is mentioned by
dbSNPrs132630296
ebirs132630296
HLIrs132630296
Exacrs132630296
Varsomers132630296
Maprs132630296
PheGenIrs132630296
hapmaprs132630296
1000 genomesrs132630296
hgdprs132630296
ensemblrs132630296
gopubmedrs132630296
geneviewrs132630296
scholarrs132630296
googlers132630296
pharmgkbrs132630296
gwascentralrs132630296
openSNPrs132630296
23andMers132630296
23andMe allrs132630296
SNP Nexus

SNPshotrs132630296
SNPdbers132630296
MSV3drs132630296
GWAS Ctlgrs132630296
Max Magnitude0
OMIM300401
Desc
Variant0027
Relatedalso
ClinVar
Risk rs132630296(T;T)
Alt rs132630296(T;T)
Reference rs132630296(G;G)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103040675G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011848.9,