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rs863224520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224520(-;-)
Make rs863224520(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149028070
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs863224520
dbSNP (classic)rs863224520
ClinGenrs863224520
ebirs863224520
HLIrs863224520
Exacrs863224520
Gnomadrs863224520
Varsomers863224520
LitVarrs863224520
Maprs863224520
PheGenIrs863224520
Biobankrs863224520
1000 genomesrs863224520
hgdprs863224520
ensemblrs863224520
geneviewrs863224520
scholarrs863224520
googlers863224520
pharmgkbrs863224520
gwascentralrs863224520
openSNPrs863224520
23andMers863224520
SNPshotrs863224520
SNPdbers863224520
MSV3drs863224520
GWAS Ctlgrs863224520
Max Magnitude0
ClinVar
Risk rs863224520(-;-)
Alt rs863224520(-;-)
Reference Rs863224520(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148407633delG
CLNSRC
CLNACC RCV000198786.1,