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: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.700 0
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.700 0
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0