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: rs74315515
rs74315515
0.925 0.240 22 37983381 missense variant C/G;T snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1999 2011
dbSNP: rs750566714
rs750566714
1.000 0.040 22 37978082 missense variant C/T snv 7.0E-06
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1999 2011
dbSNP: rs1057518656
rs1057518656
1.000 0.040 22 37983469 missense variant G/C snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1569167607
rs1569167607
1.000 0.040 22 37973727 stop gained G/C snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1569169289
rs1569169289
1.000 0.040 22 37978077 stop gained G/A snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0