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rs132630279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630279(C;C)
Make rs132630279(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787831
GenePLP1
is asnp
is mentioned by
dbSNPrs132630279
dbSNP (old)rs132630279
ClinGenrs132630279
ebirs132630279
HLIrs132630279
Exacrs132630279
Gnomadrs132630279
Varsomers132630279
Maprs132630279
PheGenIrs132630279
Biobankrs132630279
1000 genomesrs132630279
hgdprs132630279
ensemblrs132630279
gopubmedrs132630279
geneviewrs132630279
scholarrs132630279
googlers132630279
pharmgkbrs132630279
gwascentralrs132630279
openSNPrs132630279
23andMers132630279
23andMe allrs132630279
SNP Nexus

SNPshotrs132630279
SNPdbers132630279
MSV3drs132630279
GWAS Ctlgrs132630279
Max Magnitude0
OMIM300401
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630279(C;C)
Alt rs132630279(C;C)
Reference Rs132630279(T;T)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease not provided
Variation info
Gene PLP1
CLNDBN Pelizaeus-Merzbacher disease not provided
Reversed 0
HGVS NC_000023.10:g.103042760T>C
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011823.12, RCV000079097.4,