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rs267607103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607103(A;A)
Make rs267607103(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position2496587
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs267607103
dbSNP (classic)rs267607103
ClinGenrs267607103
ebirs267607103
HLIrs267607103
Exacrs267607103
Gnomadrs267607103
Varsomers267607103
LitVarrs267607103
Maprs267607103
PheGenIrs267607103
Biobankrs267607103
1000 genomesrs267607103
hgdprs267607103
ensemblrs267607103
geneviewrs267607103
scholarrs267607103
googlers267607103
pharmgkbrs267607103
gwascentralrs267607103
openSNPrs267607103
23andMers267607103
SNPshotrs267607103
SNPdbers267607103
MSV3drs267607103
GWAS Ctlgrs267607103
Max Magnitude0
ClinVar
Risk rs267607103(A;A) rs267607103(C;C)
Alt rs267607103(A;A) rs267607103(C;C)
Reference Rs267607103(G;G)
Significance Pathogenic
Disease not specified Myoclonic epilepsy
Variation info
Gene TBC1D24
CLNDBN not specified Myoclonic epilepsy, familial infantile
Reversed 0
HGVS NC_000016.9:g.2546588G>A; NC_000016.9:g.2546588G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000221106.1, RCV000000065.3,