Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs397507550
rs397507550
0.882 0.160 12 112489106 missense variant G/A;C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918462
rs121918462
0.742 0.320 12 112450398 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918457
rs121918457
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.710 1.000 39 2002 2017
dbSNP: rs121918456
rs121918456
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.020 1.000 2 2011 2017
dbSNP: rs397507549
rs397507549
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.020 1.000 2 2009 2017