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rs1057519630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519630(C;T)
Make rs1057519630(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2496552
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs1057519630
dbSNP (old)rs1057519630
ClinGenrs1057519630
ebirs1057519630
HLIrs1057519630
Exacrs1057519630
Gnomadrs1057519630
Varsomers1057519630
Maprs1057519630
PheGenIrs1057519630
Biobankrs1057519630
1000 genomesrs1057519630
hgdprs1057519630
ensemblrs1057519630
gopubmedrs1057519630
geneviewrs1057519630
scholarrs1057519630
googlers1057519630
pharmgkbrs1057519630
gwascentralrs1057519630
openSNPrs1057519630
23andMers1057519630
23andMe allrs1057519630
SNPshotrs1057519630
SNPdbers1057519630
MSV3drs1057519630
GWAS Ctlgrs1057519630
Max Magnitude0
ClinVar
Risk rs1057519630(T;T)
Alt rs1057519630(T;T)
Reference Rs1057519630(C;C)
Significance Pathogenic
Disease Parkinsonism Autosomal dominant epilepsy
Variation info
Gene TBC1D24
CLNDBN Parkinsonism Autosomal dominant epilepsy
Reversed 0
HGVS NC_000016.9:g.2546553C>T
CLNSRC
CLNACC RCV000417201.1, RCV000417203.1,