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: rs104894347
rs104894347
3 0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06 0.820 1.000 5 2000 2014
dbSNP: rs193922702
rs193922702
1 1.000 0.200 12 4370563 missense variant C/T snv 4.0E-06 0.820 1.000 4 2000 2006
dbSNP: rs28937882
rs28937882
1 1.000 0.200 12 4370564 missense variant G/A;T snv 4.0E-06 0.800 0
dbSNP: rs193922701
rs193922701
1 1.000 0.200 12 4379421 missense variant C/G snv 0.700 0