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: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 1.000 3 2011 2017
dbSNP: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0