Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554093433
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1554093433
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.700 0
dbSNP: rs1554093433
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		0.700 0
dbSNP: rs1554093433
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0