Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893902(C;T)
Make rs104893902(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232888
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893902
dbSNP (classic)rs104893902
ClinGenrs104893902
ebirs104893902
HLIrs104893902
Exacrs104893902
Gnomadrs104893902
Varsomers104893902
LitVarrs104893902
Maprs104893902
PheGenIrs104893902
Biobankrs104893902
1000 genomesrs104893902
hgdprs104893902
ensemblrs104893902
geneviewrs104893902
scholarrs104893902
googlers104893902
pharmgkbrs104893902
gwascentralrs104893902
openSNPrs104893902
23andMers104893902
SNPshotrs104893902
SNPdbers104893902
MSV3drs104893902
GWAS Ctlgrs104893902
Max Magnitude0
OMIM600584
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893902(T;T)
Alt rs104893902(T;T)
Reference Rs104893902(C;C)
Significance Pathogenic
Disease Tetralogy of Fallot
Variation info
Gene NKX2-5
CLNDBN Tetralogy of Fallot
Reversed 1
HGVS NC_000005.9:g.172659891G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009576.4,