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rs132630291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630291(C;C)
Make rs132630291(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103789346
GenePLP1
is asnp
is mentioned by
dbSNPrs132630291
ebirs132630291
HLIrs132630291
Exacrs132630291
Varsomers132630291
Maprs132630291
PheGenIrs132630291
hapmaprs132630291
1000 genomesrs132630291
hgdprs132630291
ensemblrs132630291
gopubmedrs132630291
geneviewrs132630291
scholarrs132630291
googlers132630291
pharmgkbrs132630291
gwascentralrs132630291
openSNPrs132630291
23andMers132630291
23andMe allrs132630291
SNP Nexus

SNPshotrs132630291
SNPdbers132630291
MSV3drs132630291
GWAS Ctlgrs132630291
Max Magnitude0
OMIM300401
Desc
Variant0017
Relatedalso
ClinVar
Risk rs132630291(C;C)
Alt rs132630291(C;C)
Reference rs132630291(T;T)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103044275T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011838.10,