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: rs1057521921
rs1057521921
1 1.000 0.080 X 53382613 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1344806616
rs1344806616
1 1.000 0.080 13 32770371 missense variant G/A snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs866740147
rs866740147
1 1.000 0.080 5 37000507 stop gained C/T snv 0.700 0