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rs132630287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630287(C;T)
Make rs132630287(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103786691
GenePLP1
is asnp
is mentioned by
dbSNPrs132630287
ebirs132630287
HLIrs132630287
Exacrs132630287
Varsomers132630287
Maprs132630287
PheGenIrs132630287
hapmaprs132630287
1000 genomesrs132630287
hgdprs132630287
ensemblrs132630287
gopubmedrs132630287
geneviewrs132630287
scholarrs132630287
googlers132630287
pharmgkbrs132630287
gwascentralrs132630287
openSNPrs132630287
23andMers132630287
23andMe allrs132630287
SNP Nexus

SNPshotrs132630287
SNPdbers132630287
MSV3drs132630287
GWAS Ctlgrs132630287
Max Magnitude0
OMIM300401
Desc
Variant0012
Relatedalso
ClinVar
Risk rs132630287(T;T)
Alt rs132630287(T;T)
Reference rs132630287(C;C)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103041620C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011833.10,