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rs768465241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768465241(C;T)
Make rs768465241(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position30089052
GeneTBX6
is asnp
is mentioned by
dbSNPrs768465241
dbSNP (classic)rs768465241
ClinGenrs768465241
ebirs768465241
HLIrs768465241
Exacrs768465241
Gnomadrs768465241
Varsomers768465241
LitVarrs768465241
Maprs768465241
PheGenIrs768465241
Biobankrs768465241
1000 genomesrs768465241
hgdprs768465241
ensemblrs768465241
geneviewrs768465241
scholarrs768465241
googlers768465241
pharmgkbrs768465241
gwascentralrs768465241
openSNPrs768465241
23andMers768465241
SNPshotrs768465241
SNPdbers768465241
MSV3drs768465241
GWAS Ctlgrs768465241
Max Magnitude0
ClinVar
Risk rs768465241(T;T)
Alt rs768465241(T;T)
Reference Rs768465241(C;C)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene TBX6
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000016.9:g.30100373C>T
CLNSRC
CLNACC RCV000190795.1,