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

rs132630294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630294(C;T)
Make rs132630294(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787853
GenePLP1
is asnp
is mentioned by
dbSNPrs132630294
ebirs132630294
HLIrs132630294
Exacrs132630294
Varsomers132630294
Maprs132630294
PheGenIrs132630294
hapmaprs132630294
1000 genomesrs132630294
hgdprs132630294
ensemblrs132630294
gopubmedrs132630294
geneviewrs132630294
scholarrs132630294
googlers132630294
pharmgkbrs132630294
gwascentralrs132630294
openSNPrs132630294
23andMers132630294
23andMe allrs132630294
SNP Nexus

SNPshotrs132630294
SNPdbers132630294
MSV3drs132630294
GWAS Ctlgrs132630294
Max Magnitude0
OMIM300401
Desc
Variant0020
Relatedalso
ClinVar
Risk rs132630294(T;T)
Alt rs132630294(T;T)
Reference rs132630294(C;C)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103042782C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011841.9,