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: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs750331613
rs750331613
5 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
dbSNP: rs1554844486
rs1554844486
10 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
dbSNP: rs727502818
rs727502818
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs1057518770
rs1057518770
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs201431517
rs201431517
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs80338700
rs80338700
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0