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: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 1.000 34 1992 2017
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
Cardiomyopathy, Hypertrophic, Familial
0.700 1.000 8 1992 2017
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 1.000 6 1992 2005
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder)
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
Myopathy, Hyaline Body, Autosomal Recessive
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0
dbSNP: rs121913628
rs121913628
0.763 0.160 14 23424059 missense variant C/G;T snv
X-Linked Emery-Dreifuss Muscular Dystrophy
0.700 0