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rs398122941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs398122941(-;-)
Make rs398122941(-;GT)
ReferenceGRCh38 38.1/141
Chromosome16
Position2497713
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs398122941
ebirs398122941
HLIrs398122941
Exacrs398122941
Varsomers398122941
Maprs398122941
PheGenIrs398122941
hapmaprs398122941
1000 genomesrs398122941
hgdprs398122941
ensemblrs398122941
gopubmedrs398122941
geneviewrs398122941
scholarrs398122941
googlers398122941
pharmgkbrs398122941
gwascentralrs398122941
openSNPrs398122941
23andMers398122941
23andMe allrs398122941
SNP Nexus

SNPshotrs398122941
SNPdbers398122941
MSV3drs398122941
GWAS Ctlgrs398122941
Max Magnitude0
ClinVar
Risk rs398122941(;)
Alt rs398122941(;)
Reference rs398122941(GT;GT)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 16
Variation info
Gene TBC1D24
CLNDBN Early infantile epileptic encephalopathy 16
Reversed 0
HGVS NC_000016.9:g.2547714_2547715delGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000050232.4,