Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515912
rs397515912
MYBPC3
3 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 20 2006 2017
dbSNP: rs1553197939
rs1553197939
CASQ2
1 1 115768540 start lost A/G snv 0.700 0