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: rs104894064
rs104894064
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 1.000 2 2000 2004
dbSNP: rs144495588
rs144495588
2 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs104894060
rs104894060
3 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 1.000 4 2004 2014
dbSNP: rs587779411
rs587779411
5 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0