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rs863225439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225439(-;G)
Make rs863225439(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position44567545
GeneSPG11
is asnp
is mentioned by
dbSNPrs863225439
ClinGenrs863225439
ebirs863225439
HLIrs863225439
Exacrs863225439
Varsomers863225439
Maprs863225439
PheGenIrs863225439
hapmaprs863225439
1000 genomesrs863225439
hgdprs863225439
ensemblrs863225439
gopubmedrs863225439
geneviewrs863225439
scholarrs863225439
googlers863225439
pharmgkbrs863225439
gwascentralrs863225439
openSNPrs863225439
23andMers863225439
23andMe allrs863225439
SNP Nexus

SNPshotrs863225439
SNPdbers863225439
MSV3drs863225439
GWAS Ctlgrs863225439
Max Magnitude0
ClinVar
Risk rs863225439(G;G)
Alt rs863225439(G;G)
Reference Rs863225439(-;-)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SPG11
CLNDBN Charcot-Marie-Tooth disease, axonal type 2X
Reversed 1
HGVS NC_000015.9:g.44859744dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000202374.2,