Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1248889536
rs1248889536
18 46610789 stop gained C/A;T snv 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs150529554
rs150529554
13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1557458426
rs1557458426
1 16033225 missense variant G/T snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1558480402
rs1558480402
2 26474022 frameshift variant -/T delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1558490542
rs1558490542
2 26482435 missense variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1559366084
rs1559366084
2 178453569 frameshift variant ACCTTTTACAC/- delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1559870857
rs1559870857
3 121993587 frameshift variant AA/- del
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1560690591
rs1560690591
4 43020381 missense variant G/A snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1561299289
rs1561299289
5 69432566 frameshift variant -/A delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1562817224
rs1562817224
7 107661680 frameshift variant C/- delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1562817529
rs1562817529
7 107661795 stop gained A/T snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1562822565
rs1562822565
7 107672150 missense variant C/T snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1562835391
rs1562835391
7 107694400 splice region variant C/G snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1564113368
rs1564113368
9 114403925 frameshift variant CG/- del
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1564554255
rs1564554255
9 72788399 stop gained G/A snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1564555240
rs1564555240
9 72789319 splice donor variant T/C snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1564805114
rs1564805114
10 71807558 frameshift variant -/CGAT ins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565127413
rs1565127413
11 17633806 frameshift variant G/- del
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565430886
rs1565430886
11 77189430 missense variant T/C snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565469959
rs1565469959
11 77203220 splice region variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565522273
rs1565522273
11 121125872 missense variant G/A snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565819402
rs1565819402
12 80613829 frameshift variant AT/- delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1565855932
rs1565855932
12 80678601 splice acceptor variant G/A snv
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs1567939793
rs1567939793
17 74920024 frameshift variant G/- delins
CUI: C0011053
Disease: Deafness
Deafness
0.700 0
dbSNP: rs180899529
rs180899529
12 15669833 splice region variant T/C;G snv 2.7E-05; 9.1E-06
CUI: C0011053
Disease: Deafness
Deafness
0.700 0