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: rs201307101
rs201307101
MYH7 ; MHRT
0.925 0.080 14 23417295 missense variant C/A;G;T snv 3.0E-04; 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs201307101
rs201307101
MYH7 ; MHRT
0.925 0.080 14 23417295 missense variant C/A;G;T snv 3.0E-04; 4.0E-06
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 1.000 6 2000 2012