Source: CURATED

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: rs1559320436
rs1559320436
PAX3 ; CCDC140
1.000 0.040 2 222297097 inframe deletion GGATGCCGTGGTGGGCCA/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0