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: rs1057517694
rs1057517694
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs1057518895
rs1057518895
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
dbSNP: rs111033437
rs111033437
6 0.882 0.120 11 77179925 missense variant G/A;T snv 0.700 0
dbSNP: rs1302739538
rs1302739538
3 0.882 0.120 13 20189066 stop gained C/G;T snv 0.700 0
dbSNP: rs1348505504
rs1348505504
1 1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06 0.700 0
dbSNP: rs144948296
rs144948296
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs1553212868
rs1553212868
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1559320299
rs1559320299
4 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1566304640
rs1566304640
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs1567498374
rs1567498374
5 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1569167515
rs1569167515
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs1569169328
rs1569169328
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1569492161
rs1569492161
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs200455852
rs200455852
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs281874674
rs281874674
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs28931593
rs28931593
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs372466080
rs372466080
2 0.925 0.120 17 18166434 synonymous variant C/T snv 1.9E-04 1.0E-04 0.700 0
dbSNP: rs397516875
rs397516875
2 0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05 0.700 0
dbSNP: rs549556142
rs549556142
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0