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rs863224931

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224931(C;C)
Make rs863224931(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2499864
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs863224931
ebirs863224931
HLIrs863224931
Exacrs863224931
Varsomers863224931
Maprs863224931
PheGenIrs863224931
hapmaprs863224931
1000 genomesrs863224931
hgdprs863224931
ensemblrs863224931
gopubmedrs863224931
geneviewrs863224931
scholarrs863224931
googlers863224931
pharmgkbrs863224931
gwascentralrs863224931
openSNPrs863224931
23andMers863224931
23andMe allrs863224931
SNP Nexus

SNPshotrs863224931
SNPdbers863224931
MSV3drs863224931
GWAS Ctlgrs863224931
Max Magnitude0
ClinVar
Risk rs863224931(C;C)
Alt rs863224931(C;C)
Reference rs863224931(G;G)
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.2549865G>C
CLNSRC
CLNACC RCV000200681.1,