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: rs1006060877
rs1006060877
1 1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05 0.700 0
dbSNP: rs104894490
rs104894490
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 0
dbSNP: rs1057518697
rs1057518697
2 0.925 0.120 X 53210820 missense variant G/A snv 0.700 0
dbSNP: rs1057518760
rs1057518760
4 1.000 0.080 2 240788182 missense variant C/T snv 0.700 0
dbSNP: rs1057518813
rs1057518813
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057518880
rs1057518880
1 1.000 0.080 2 32126966 frameshift variant G/- del 0.700 0
dbSNP: rs1060499939
rs1060499939
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs1060502224
rs1060502224
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1060503431
rs1060503431
1 1.000 0.080 13 23334312 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs1156566314
rs1156566314
1 1.000 0.080 13 23332937 stop gained C/A;T snv 0.700 0
dbSNP: rs119476046
rs119476046
5 0.827 0.240 14 50613343 missense variant C/T snv 0.700 0
dbSNP: rs121434443
rs121434443
2 0.925 0.120 12 57569263 missense variant A/G snv 0.700 0
dbSNP: rs121908611
rs121908611
2 0.925 0.120 8 64596913 missense variant C/T snv 2.8E-05 6.3E-05 0.700 0
dbSNP: rs121908613
rs121908613
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0
dbSNP: rs121918262
rs121918262
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1448182827
rs1448182827
1 1.000 0.080 9 35738148 frameshift variant G/- del 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1553314978
rs1553314978
2 0.925 0.120 2 32114826 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1555979596
rs1555979596
2 1.000 0.080 X 74421994 frameshift variant CT/- delins 0.700 0
dbSNP: rs1557091278
rs1557091278
1 1.000 0.080 X 153867355 splice donor variant C/T snv 0.700 0
dbSNP: rs1557092248
rs1557092248
1 1.000 0.080 X 153869520 stop gained G/A snv 0.700 0
dbSNP: rs1562502139
rs1562502139
2 0.925 0.200 7 22983996 frameshift variant TT/- del 0.700 0
dbSNP: rs1569544723
rs1569544723
1 1.000 0.080 X 153867479 stop gained G/A snv 0.700 0
dbSNP: rs200440467
rs200440467
2 0.925 0.080 14 31072968 stop gained C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs200737038
rs200737038
1 1.000 0.080 8 64616207 stop gained G/A snv 1.4E-04 7.0E-05 0.700 0
dbSNP: rs200832994
rs200832994
2 0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05 0.700 0