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: rs1057516535
rs1057516535
1.000 0.160 7 107696030 splice donor variant TCAGTTGTGAGT/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057516634
rs1057516634
1.000 0.160 7 107661696 frameshift variant A/- del 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057516636
rs1057516636
1.000 0.160 7 107701988 frameshift variant C/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057516678
rs1057516678
1.000 0.160 7 107674963 stop gained C/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057516717
rs1057516717
1.000 0.160 7 107695931 splice acceptor variant A/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057516796
rs1057516796
1.000 0.160 7 107704363 frameshift variant T/- del
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057517246
rs1057517246
1.000 0.160 7 107683290 frameshift variant GGAATTAA/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1057517298
rs1057517298
1.000 0.160 7 107694620 splice acceptor variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1060499807
rs1060499807
1.000 0.160 7 107689200 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1060499808
rs1060499808
0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs111033241
rs111033241
1.000 0.160 7 107663423 frameshift variant CACGC/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs111033245
rs111033245
1.000 0.160 7 107683355 splice donor variant G/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1241745103
rs1241745103
0.925 0.160 7 107701139 frameshift variant G/- del 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1298217152
rs1298217152
1.000 0.160 7 107710138 frameshift variant -/TA delins 4.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1413121429
rs1413121429
1.000 0.160 7 107694619 splice acceptor variant A/C snv 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1455597424
rs1455597424
1.000 0.160 7 107710053 splice acceptor variant G/A snv 8.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1554357206
rs1554357206
1.000 0.160 7 107683434 splice acceptor variant ATCTTTTGTTTTATTTCAGACGATAATTGCTAC/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1554360707
rs1554360707
1.000 0.160 7 107700177 splice donor variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1554360841
rs1554360841
1.000 0.160 7 107701132 frameshift variant AG/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1554361624
rs1554361624
1.000 0.160 7 107704387 splice donor variant T/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs1554362815
rs1554362815
1.000 0.160 7 107710201 splice donor variant T/C snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs201636911
rs201636911
1.000 0.160 7 107661783 stop gained G/A;T snv 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs201660407
rs201660407
0.925 0.160 7 107690236 missense variant A/C;G snv 8.0E-06; 1.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs397516417
rs397516417
1.000 0.160 7 107694480 splice donor variant G/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0
dbSNP: rs397516418
rs397516418
1.000 0.160 7 107694718 splice donor variant T/G snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.700 0