Source: CLINVAR

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: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0