Rs104893901

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893901(C;T)
Make rs104893901(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233036
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893901
PheGenIrs104893901
nextbiors104893901
hapmaprs104893901
1000 genomesrs104893901
hgdprs104893901
ensemblrs104893901
gopubmedrs104893901
geneviewrs104893901
scholarrs104893901
googlers104893901
pharmgkbrs104893901
gwascentralrs104893901
openSNPrs104893901
23andMers104893901
23andMe allrs104893901
SNP Nexus

SNPshotrs104893901
SNPdbers104893901
MSV3drs104893901
Max Magnitude0
OMIM600584
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893901(T;T)
Alt rs104893901(T;T)
Reference rs104893901(C;C)
Significance Pathogenic
Disease Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172660039G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009569.1,