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rs104893904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893904(C;C)
Make rs104893904(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position173235023
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893904
dbSNP (old)rs104893904
ClinGenrs104893904
ebirs104893904
HLIrs104893904
Exacrs104893904
Gnomadrs104893904
Varsomers104893904
Maprs104893904
PheGenIrs104893904
Biobankrs104893904
1000 genomesrs104893904
hgdprs104893904
ensemblrs104893904
gopubmedrs104893904
geneviewrs104893904
scholarrs104893904
googlers104893904
pharmgkbrs104893904
gwascentralrs104893904
openSNPrs104893904
23andMers104893904
23andMe allrs104893904
SNPshotrs104893904
SNPdbers104893904
MSV3drs104893904
GWAS Ctlgrs104893904
Max Magnitude0
OMIM600584
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893904(C;C)
Alt rs104893904(C;C)
Reference Rs104893904(G;G)
Significance Other
Disease Tetralogy of Fallot Congenital heart disease not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Tetralogy of Fallot Congenital heart disease not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172662026C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009574.6, RCV000030618.1, RCV000171013.5, RCV000457939.1,