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: rs1131692167
rs1131692167
1 1.000 0.120 7 94409404 missense variant G/T snv 0.700 0
dbSNP: rs1135401953
rs1135401953
1 1.000 0.120 17 50195284 missense variant C/T snv 0.700 0
dbSNP: rs1228746935
rs1228746935
1 1.000 0.120 17 50194813 stop gained G/A;C snv 0.700 0
dbSNP: rs1298621011
rs1298621011
1 1.000 0.120 17 50196483 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1554395411
rs1554395411
2 0.925 0.120 7 94404702 missense variant G/A snv 0.700 0
dbSNP: rs1554395470
rs1554395470
1 1.000 0.120 7 94405196 splice region variant T/G snv 0.700 0
dbSNP: rs1554395970
rs1554395970
2 0.925 0.120 7 94408815 missense variant G/C snv 0.700 0
dbSNP: rs1554396612
rs1554396612
2 0.925 0.120 7 94412656 missense variant G/C snv 0.700 0
dbSNP: rs1554396615
rs1554396615
2 0.925 0.120 7 94412683 splice donor variant G/C snv 0.700 0
dbSNP: rs1554396983
rs1554396983
2 0.925 0.120 7 94415254 missense variant G/C snv 0.700 0
dbSNP: rs1554398251
rs1554398251
2 0.925 0.120 7 94425162 missense variant G/A snv 0.700 0
dbSNP: rs1554398261
rs1554398261
2 0.925 0.120 7 94425199 missense variant G/A snv 0.700 0
dbSNP: rs1555571647
rs1555571647
1 1.000 0.120 17 50185936 stop gained G/A snv 0.700 0
dbSNP: rs1555571849
rs1555571849
1 1.000 0.120 17 50186807 missense variant T/C snv 0.700 0
dbSNP: rs1555571874
rs1555571874
1 1.000 0.120 17 50186913 frameshift variant -/G delins 0.700 0
dbSNP: rs1555571916
rs1555571916
1 1.000 0.120 17 50187051 frameshift variant A/- del 0.700 0
dbSNP: rs1555571942
rs1555571942
1 1.000 0.120 17 50187114 frameshift variant -/G delins 0.700 0
dbSNP: rs1555572013
rs1555572013
1 1.000 0.120 17 50187500 missense variant C/G snv 0.700 0
dbSNP: rs1555572120
rs1555572120
1 1.000 0.120 17 50187959 frameshift variant -/G delins 0.700 0
dbSNP: rs1555572121
rs1555572121
1 1.000 0.120 17 50187960 frameshift variant -/TC delins 0.700 0
dbSNP: rs1555572161
rs1555572161
1 1.000 0.120 17 50188112 frameshift variant C/- delins 0.700 0
dbSNP: rs1555572456
rs1555572456
1 1.000 0.120 17 50189418 frameshift variant GGCCAG/CGCCA delins 0.700 0
dbSNP: rs1555573004
rs1555573004
1 1.000 0.120 17 50191401 frameshift variant T/- del 0.700 0
dbSNP: rs1555573039
rs1555573039
1 1.000 0.120 17 50191479 frameshift variant A/- del 0.700 0
dbSNP: rs1555573313
rs1555573313
1 1.000 0.120 17 50192639 splice donor variant C/T snv 0.700 0