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rs863225440

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225440(C;T)
Make rs863225440(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position44659154
GeneSPG11
is asnp
is mentioned by
dbSNPrs863225440
ebirs863225440
HLIrs863225440
Exacrs863225440
Varsomers863225440
Maprs863225440
PheGenIrs863225440
hapmaprs863225440
1000 genomesrs863225440
hgdprs863225440
ensemblrs863225440
gopubmedrs863225440
geneviewrs863225440
scholarrs863225440
googlers863225440
pharmgkbrs863225440
gwascentralrs863225440
openSNPrs863225440
23andMers863225440
23andMe allrs863225440
SNP Nexus

SNPshotrs863225440
SNPdbers863225440
MSV3drs863225440
GWAS Ctlgrs863225440
Max Magnitude0
ClinVar
Risk rs863225440(T;T)
Alt rs863225440(T;T)
Reference rs863225440(C;C)
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.44951352G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202379.2,