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rs863223337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223337(C;C)
Make rs863223337(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2496624
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs863223337
dbSNP (classic)rs863223337
ClinGenrs863223337
ebirs863223337
HLIrs863223337
Exacrs863223337
Gnomadrs863223337
Varsomers863223337
LitVarrs863223337
Maprs863223337
PheGenIrs863223337
Biobankrs863223337
1000 genomesrs863223337
hgdprs863223337
ensemblrs863223337
geneviewrs863223337
scholarrs863223337
googlers863223337
pharmgkbrs863223337
gwascentralrs863223337
openSNPrs863223337
23andMers863223337
SNPshotrs863223337
SNPdbers863223337
MSV3drs863223337
GWAS Ctlgrs863223337
Max Magnitude0
ClinVar
Risk rs863223337(C;C)
Alt rs863223337(C;C)
Reference Rs863223337(T;T)
Significance Pathogenic
Disease Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2546625T>C
CLNSRC
CLNACC RCV000196831.1,