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rs765965968

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs765965968(G;T)
Make rs765965968(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2498333
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs765965968
ebirs765965968
HLIrs765965968
Exacrs765965968
Varsomers765965968
Maprs765965968
PheGenIrs765965968
hapmaprs765965968
1000 genomesrs765965968
hgdprs765965968
ensemblrs765965968
gopubmedrs765965968
geneviewrs765965968
scholarrs765965968
googlers765965968
pharmgkbrs765965968
gwascentralrs765965968
openSNPrs765965968
23andMers765965968
23andMe allrs765965968
SNP Nexus

SNPshotrs765965968
SNPdbers765965968
MSV3drs765965968
GWAS Ctlgrs765965968
Max Magnitude0
ClinVar
Risk rs765965968(A,T;A,T)
Alt rs765965968(A,T;A,T)
Reference rs765965968(G;G)
Significance Pathogenic
Disease Progressive myoclonus epilepsy with ataxia
Variation info
Gene TBC1D24
CLNDBN Progressive myoclonus epilepsy with ataxia
Reversed 0
HGVS NC_000016.9:g.2548334G>T
CLNSRC
CLNACC RCV000192071.1,