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: rs1564805114
rs1564805114
1 10 71807558 frameshift variant -/CGAT ins 0.700 0
dbSNP: rs762118583
rs762118583
1 10 71791284 missense variant A/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1557458426
rs1557458426
1 1 16033225 missense variant G/T snv 0.700 0
dbSNP: rs74315437
rs74315437
2 1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05 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: rs150529554
rs150529554
1 13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04 0.700 0
dbSNP: rs755804651
rs755804651
1 1 108896945 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1560690591
rs1560690591
1 4 43020381 missense variant G/A snv 0.700 0
dbSNP: rs1559870857
rs1559870857
1 3 121993587 frameshift variant AA/- del 0.700 0
dbSNP: rs1248889536
rs1248889536
1 18 46610789 stop gained C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1561299289
rs1561299289
1 5 69432566 frameshift variant -/A delins 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: rs192378817
rs192378817
1 11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04 0.700 0
dbSNP: rs746667217
rs746667217
1 11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05 0.700 0
dbSNP: rs751242455
rs751242455
1 11 77204094 missense variant G/A;C snv 8.8E-06; 4.4E-05 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: rs1565127413
rs1565127413
1 11 17633806 frameshift variant G/- del 0.700 0
dbSNP: rs1559366084
rs1559366084
1 2 178453569 frameshift variant ACCTTTTACAC/- delins 0.700 0
dbSNP: rs367688416
rs367688416
1 2 178454526 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs538027448
rs538027448
1 2 178453567 stop gained C/G;T snv 4.0E-06 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: rs1562822565
rs1562822565
1 7 107672150 missense variant C/T snv 0.700 0