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: rs74315283
rs74315283
AGT
1 1.000 0.120 1 230705933 missense variant C/A;T snv 8.0E-06; 2.4E-05 0.800 1.000 1 2005 2005
dbSNP: rs121912702
rs121912702
AGT
1 1.000 0.120 1 230710247 stop gained G/A snv 0.700 0
dbSNP: rs387906578
rs387906578
AGT
1 1.000 0.120 1 230703309 frameshift variant A/-;AA delins 0.700 0