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rs132630288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630288(C;C)
Make rs132630288(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103787904
GenePLP1
is asnp
is mentioned by
dbSNPrs132630288
ebirs132630288
HLIrs132630288
Exacrs132630288
Varsomers132630288
Maprs132630288
PheGenIrs132630288
hapmaprs132630288
1000 genomesrs132630288
hgdprs132630288
ensemblrs132630288
gopubmedrs132630288
geneviewrs132630288
scholarrs132630288
googlers132630288
pharmgkbrs132630288
gwascentralrs132630288
openSNPrs132630288
23andMers132630288
23andMe allrs132630288
SNP Nexus

SNPshotrs132630288
SNPdbers132630288
MSV3drs132630288
GWAS Ctlgrs132630288
Max Magnitude0
OMIM300401
Desc
Variant0013
Relatedalso
ClinVar
Risk rs132630288(C;C)
Alt rs132630288(C;C)
Reference rs132630288(T;T)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103042833T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011834.10,