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: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 2012 2013
dbSNP: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
0.700 1.000 3 2012 2013
dbSNP: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 1.000 3 2012 2013
dbSNP: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 1.000 3 2012 2013