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rs770820144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770820144(A;A)
Make rs770820144(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2496486
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs770820144
dbSNP (classic)rs770820144
ClinGenrs770820144
ebirs770820144
HLIrs770820144
Exacrs770820144
Gnomadrs770820144
Varsomers770820144
LitVarrs770820144
Maprs770820144
PheGenIrs770820144
Biobankrs770820144
1000 genomesrs770820144
hgdprs770820144
ensemblrs770820144
geneviewrs770820144
scholarrs770820144
googlers770820144
pharmgkbrs770820144
gwascentralrs770820144
openSNPrs770820144
23andMers770820144
SNPshotrs770820144
SNPdbers770820144
MSV3drs770820144
GWAS Ctlgrs770820144
Max Magnitude0
ClinVar
Risk rs770820144(A;A)
Alt rs770820144(A;A)
Reference Rs770820144(C;C)
Significance Pathogenic
Disease Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2546487C>A
CLNSRC
CLNACC RCV000196831.1,