Have questions? Visit https://www.reddit.com/r/SNPedia

rs863224454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs863224454(AG;AG)
Make rs863224454(AG;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149028145
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs863224454
dbSNP (old)rs863224454
ClinGenrs863224454
ebirs863224454
HLIrs863224454
Exacrs863224454
Varsomers863224454
Maprs863224454
PheGenIrs863224454
Biobankrs863224454
1000 genomesrs863224454
hgdprs863224454
ensemblrs863224454
gopubmedrs863224454
geneviewrs863224454
scholarrs863224454
googlers863224454
pharmgkbrs863224454
gwascentralrs863224454
openSNPrs863224454
23andMers863224454
23andMe allrs863224454
SNP Nexus

SNPshotrs863224454
SNPdbers863224454
MSV3drs863224454
GWAS Ctlgrs863224454
Max Magnitude0
ClinVar
Risk rs863224454(AG;AG)
Alt rs863224454(AG;AG)
Reference Rs863224454(GT;GT)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148407708_148407709delACinsCT
CLNSRC
CLNACC RCV000196497.1,