Source: ALL

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: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
0.925 0.080 14 23417598 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2004 2017
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
0.925 0.080 14 23417598 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0