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: rs1057519181
rs1057519181
1 1.000 0.080 2 32116180 missense variant G/A snv 0.700 0
dbSNP: rs1060499670
rs1060499670
1 1.000 0.080 2 32126960 missense variant C/T snv 0.700 0
dbSNP: rs1060499939
rs1060499939
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs1060502226
rs1060502226
1 1.000 0.080 2 32127023 splice donor variant G/A snv 0.700 0
dbSNP: rs1060502229
rs1060502229
1 1.000 0.080 2 32064241 frameshift variant A/- del 0.700 0
dbSNP: rs1060502230
rs1060502230
1 1.000 0.080 2 32064221 frameshift variant CC/GGT delins 0.700 0
dbSNP: rs1064793273
rs1064793273
1 1.000 0.080 2 32128459 missense variant G/A snv 0.700 0
dbSNP: rs1131691977
rs1131691977
1 1.000 0.080 2 32127018 missense variant T/A;C snv 0.700 0
dbSNP: rs121908519
rs121908519
1 1.000 0.080 2 32136890 missense variant C/A snv 0.700 0
dbSNP: rs1343258361
rs1343258361
1 1.000 0.080 2 32064114 missense variant G/A snv 0.700 0
dbSNP: rs141944844
rs141944844
1 1.000 0.080 2 32087560 missense variant G/A snv 2.0E-03 1.9E-03 0.700 0
dbSNP: rs142053576
rs142053576
1 1.000 0.080 2 32144945 missense variant A/G snv 4.6E-04 2.3E-04 0.700 0
dbSNP: rs1421791559
rs1421791559
1 1.000 0.080 2 32114825 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs143003434
rs143003434
7 1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs1553314896
rs1553314896
1 1.000 0.080 2 32114689 stop gained C/G snv 0.700 0
dbSNP: rs1553314948
rs1553314948
1 1.000 0.080 2 32114793 stop gained C/T snv 0.700 0
dbSNP: rs1553315181
rs1553315181
1 1.000 0.080 2 32115710 frameshift variant -/A delins 0.700 0
dbSNP: rs1553315321
rs1553315321
1 1.000 0.080 2 32116130 frameshift variant AAATT/- delins 0.700 0
dbSNP: rs1553317032
rs1553317032
1 1.000 0.080 2 32128446 frameshift variant TATAA/- delins 0.700 0
dbSNP: rs1553318164
rs1553318164
1 1.000 0.080 2 32136569 stop gained G/T snv 0.700 0
dbSNP: rs1553318184
rs1553318184
1 1.000 0.080 2 32136624 missense variant C/T snv 0.700 0
dbSNP: rs1553318274
rs1553318274
1 1.000 0.080 2 32136967 missense variant G/A snv 0.700 0
dbSNP: rs1553318313
rs1553318313
1 1.000 0.080 2 32137137 frameshift variant -/A ins 0.700 0
dbSNP: rs1553318320
rs1553318320
1 1.000 0.080 2 32137151 missense variant A/G snv 0.700 0
dbSNP: rs1553318347
rs1553318347
1 1.000 0.080 2 32137179 missense variant C/T snv 0.700 0