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rs181969865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs181969865(C;T)
Make rs181969865(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position82924992
GeneTBCD
is asnp
is mentioned by
dbSNPrs181969865
dbSNP (old)rs181969865
ClinGenrs181969865
ebirs181969865
HLIrs181969865
Exacrs181969865
Gnomadrs181969865
Varsomers181969865
Maprs181969865
PheGenIrs181969865
Biobankrs181969865
1000 genomesrs181969865
hgdprs181969865
ensemblrs181969865
gopubmedrs181969865
geneviewrs181969865
scholarrs181969865
googlers181969865
pharmgkbrs181969865
gwascentralrs181969865
openSNPrs181969865
23andMers181969865
23andMe allrs181969865
SNPshotrs181969865
SNPdbers181969865
MSV3drs181969865
GWAS Ctlgrs181969865
Max Magnitude0
ClinVar
Risk rs181969865(T;T)
Alt rs181969865(T;T)
Reference Rs181969865(C;C)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene TBCD
CLNDBN Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Reversed 0
HGVS NC_000017.10:g.80882868C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000258905.1,