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rs104893905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893905(C;T)
Make rs104893905(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232898
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893905
dbSNP (classic)rs104893905
ClinGenrs104893905
ebirs104893905
HLIrs104893905
Exacrs104893905
Gnomadrs104893905
Varsomers104893905
LitVarrs104893905
Maprs104893905
PheGenIrs104893905
Biobankrs104893905
1000 genomesrs104893905
hgdprs104893905
ensemblrs104893905
geneviewrs104893905
scholarrs104893905
googlers104893905
pharmgkbrs104893905
gwascentralrs104893905
openSNPrs104893905
23andMers104893905
SNPshotrs104893905
SNPdbers104893905
MSV3drs104893905
GWAS Ctlgrs104893905
Max Magnitude0
OMIM600584
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893905(T;T)
Alt rs104893905(T;T)
Reference Rs104893905(C;C)
Significance Pathogenic
Disease Tetralogy of Fallot
Variation info
Gene NKX2-5
CLNDBN Tetralogy of Fallot
Reversed 1
HGVS NC_000005.9:g.172659901G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009575.4,