Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553704814
rs1553704814
0.882 0.280 3 69956461 inframe deletion AGA/- delins
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1995 2018
dbSNP: rs1057518765
rs1057518765
1.000 0.040 3 69949082 missense variant A/G snv 4.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs104893746
rs104893746
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs763119975
rs763119975
1.000 0.040 3 69956488 missense variant G/A;T snv 8.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs876657699
rs876657699
0.925 0.040 3 69959370 stop gained C/G;T snv
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019