rs730880850, MYH7

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
19 0.882 0.040 14 23431584 splice donor variant C/T snv 4.0E-06 0.700 1.000 4 2008 2013
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.882 0.040 14 23431584 splice donor variant C/T snv 4.0E-06 0.700 0
LEFT VENTRICULAR NONCOMPACTION 5
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
6 0.882 0.040 14 23431584 splice donor variant C/T snv 4.0E-06 0.700 0