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rs132630295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630295(C;T)
Make rs132630295(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103786682
GenePLP1
is asnp
is mentioned by
dbSNPrs132630295
ebirs132630295
HLIrs132630295
Exacrs132630295
Varsomers132630295
Maprs132630295
PheGenIrs132630295
hapmaprs132630295
1000 genomesrs132630295
hgdprs132630295
ensemblrs132630295
gopubmedrs132630295
geneviewrs132630295
scholarrs132630295
googlers132630295
pharmgkbrs132630295
gwascentralrs132630295
openSNPrs132630295
23andMers132630295
23andMe allrs132630295
SNP Nexus

SNPshotrs132630295
SNPdbers132630295
MSV3drs132630295
GWAS Ctlgrs132630295
Max Magnitude0
OMIM300401
Desc
Variant0026
Relatedalso
ClinVar
Risk rs132630295(T;T)
Alt rs132630295(T;T)
Reference rs132630295(C;C)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103041611C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011847.6,