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rs864622194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864622194(C;C)
Make rs864622194(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position103776997
GenePLP1
is asnp
is mentioned by
dbSNPrs864622194
dbSNP (classic)rs864622194
ClinGenrs864622194
ebirs864622194
HLIrs864622194
Exacrs864622194
Gnomadrs864622194
Varsomers864622194
LitVarrs864622194
Maprs864622194
PheGenIrs864622194
Biobankrs864622194
1000 genomesrs864622194
hgdprs864622194
ensemblrs864622194
geneviewrs864622194
scholarrs864622194
googlers864622194
pharmgkbrs864622194
gwascentralrs864622194
openSNPrs864622194
23andMers864622194
SNPshotrs864622194
SNPdbers864622194
MSV3drs864622194
GWAS Ctlgrs864622194
Max Magnitude0
ClinVar
Risk rs864622194(C;C)
Alt rs864622194(C;C)
Reference Rs864622194(T;T)
Significance Pathogenic
Disease Spastic paraplegia 2
Variation info
Gene PLP1
CLNDBN Spastic paraplegia 2
Reversed 0
HGVS NC_000023.10:g.103031925T>C
CLNSRC
CLNACC RCV000203805.1,