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rs863224932

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224932(C;C)
Make rs863224932(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2499916
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs863224932
ebirs863224932
HLIrs863224932
Exacrs863224932
Varsomers863224932
Maprs863224932
PheGenIrs863224932
hapmaprs863224932
1000 genomesrs863224932
hgdprs863224932
ensemblrs863224932
gopubmedrs863224932
geneviewrs863224932
scholarrs863224932
googlers863224932
pharmgkbrs863224932
gwascentralrs863224932
openSNPrs863224932
23andMers863224932
23andMe allrs863224932
SNP Nexus

SNPshotrs863224932
SNPdbers863224932
MSV3drs863224932
GWAS Ctlgrs863224932
Max Magnitude0
ClinVar
Risk rs863224932(C;C)
Alt rs863224932(C;C)
Reference rs863224932(T;T)
Significance Probable-Pathogenic
Disease Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2549917T>C
CLNSRC
CLNACC RCV000200681.1,