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Rs104893904

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Orientationplus
is asnp
is mentioned by
dbSNPrs104893904
PheGenIrs104893904
hapmaprs104893904
1000 genomesrs104893904
hgdprs104893904
ensemblrs104893904
gopubmedrs104893904
geneviewrs104893904
scholarrs104893904
googlers104893904
pharmgkbrs104893904
gwascentralrs104893904
openSNPrs104893904
23andMers104893904
23andMe allrs104893904
SNP Nexus

SNPshotrs104893904
SNPdbers104893904
MSV3drs104893904
GeneNKX2-5
Chromosome5
Orientationplus
Position173235023
ReferenceGRCh38 38.1/141
Max Magnitude
Make rs104893904(C;C)
Make rs104893904(C;G)
Make rs104893904(G;G)
OMIM600584
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893904(C;C)
Alt rs104893904(C;C)
Reference rs104893904(G;G)
Significance 5
Disease Tetralogy of Fallot, Atrial septal defect 7 with or without atrioventricular conduction defects, Congenital heart disease
ClinVar info
Gene NKX2-5
CLNDBN Tetralogy of Fallot, Atrial septal defect 7 with or without atrioventricular conduction defects, Congenital heart disease
Reversed 1
CLNHGVS NC_000005.9:g.172662026C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009574.3, RCV000030618.1


GET Evidence
NKX2-5-E21Q
aa_change Glu21Gln
aa_change_short E21Q
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.000470189
summary Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism.