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: rs104894368
rs104894368
MYL2
4 0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs12720452
rs12720452
SCN5A
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 1.000 1 2016 2016