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: rs104893748
rs104893748
MYL3
0.925 0.080 3 46859511 missense variant T/C snv
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 1.000 0 1996 2017
dbSNP: rs104893749
rs104893749
MYL3
0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 1.000 0 1996 2013
dbSNP: rs104893750
rs104893750
MYL3
0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 1.000 0 1996 2013
dbSNP: rs139794067
rs139794067
MYL3
0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 < 0.001 0 2018 2018
dbSNP: rs104893750
rs104893750
MYL3
0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 7 2002 2017
dbSNP: rs104893750
rs104893750
MYL3
0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2002 2017
dbSNP: rs199474703
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2008 2017
dbSNP: rs199474707
rs199474707
MYL3
1.000 0.080 3 46859490 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 1.6E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 1.000 4 2006 2017
dbSNP: rs104893749
rs104893749
MYL3
0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 2 1996 2012
dbSNP: rs199474706
rs199474706
MYL3
1.000 0.040 3 46859493 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2009 2017
dbSNP: rs199474703
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs104893748
rs104893748
MYL3
0.925 0.080 3 46859511 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs139794067
rs139794067
MYL3
0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 0
dbSNP: rs199474703
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 0
dbSNP: rs199474703
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880162
rs730880162
MYL3
1.000 0.080 3 46859509 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs869025485
rs869025485
MYL3
1.000 0.080 3 46859573 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0