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: rs1236436555
rs1236436555
1.000 0.040 3 69936760 splice region variant G/C snv 7.0E-06
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0