Source: ALL
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: rs150529554
rs150529554
1 13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04 0.700 0
dbSNP: rs1557458426
rs1557458426
1 1 16033225 missense variant G/T snv 0.700 0
dbSNP: rs1558480402
rs1558480402
1 2 26474022 frameshift variant -/T delins 0.700 0
dbSNP: rs1558490542
rs1558490542
1 2 26482435 missense variant A/G snv 0.700 0
dbSNP: rs1559366084
rs1559366084
1 2 178453569 frameshift variant ACCTTTTACAC/- delins 0.700 0
dbSNP: rs1559870857
rs1559870857
1 3 121993587 frameshift variant AA/- del 0.700 0
dbSNP: rs1560690591
rs1560690591
1 4 43020381 missense variant G/A snv 0.700 0
dbSNP: rs1561299289
rs1561299289
1 5 69432566 frameshift variant -/A delins 0.700 0
dbSNP: rs1562817224
rs1562817224
1 7 107661680 frameshift variant C/- delins 0.700 0
dbSNP: rs1562817529
rs1562817529
1 7 107661795 stop gained A/T snv 0.700 0
dbSNP: rs1562822565
rs1562822565
1 7 107672150 missense variant C/T snv 0.700 0
dbSNP: rs1562835391
rs1562835391
1 7 107694400 splice region variant C/G snv 0.700 0
dbSNP: rs1564113368
rs1564113368
1 9 114403925 frameshift variant CG/- del 0.700 0
dbSNP: rs1564554255
rs1564554255
1 9 72788399 stop gained G/A snv 0.700 0
dbSNP: rs1564555240
rs1564555240
1 9 72789319 splice donor variant T/C snv 0.700 0
dbSNP: rs1564805114
rs1564805114
1 10 71807558 frameshift variant -/CGAT ins 0.700 0
dbSNP: rs1565127413
rs1565127413
1 11 17633806 frameshift variant G/- del 0.700 0
dbSNP: rs1565430886
rs1565430886
1 11 77189430 missense variant T/C snv 0.700 0
dbSNP: rs1565469959
rs1565469959
1 11 77203220 splice region variant A/G snv 0.700 0
dbSNP: rs1565522273
rs1565522273
1 11 121125872 missense variant G/A snv 0.700 0
dbSNP: rs1565819402
rs1565819402
1 12 80613829 frameshift variant AT/- delins 0.700 0
dbSNP: rs1565855932
rs1565855932
1 12 80678601 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1567939793
rs1567939793
1 17 74920024 frameshift variant G/- delins 0.700 0
dbSNP: rs180899529
rs180899529
1 12 15669833 splice region variant T/C;G snv 2.7E-05; 9.1E-06 0.700 0
dbSNP: rs201866631
rs201866631
4 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0