Disease: Waardenburg Syndrome Type 1 ×
Source: ALL
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: rs1559749017
rs1559749017 		0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs876657699
rs876657699 		0.925 0.040 3 69959370 stop gained C/G;T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2018 2018