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: rs1553572967
rs1553572967
PAX3 ; LOC107985991
0.925 0.040 2 222221300 frameshift variant -/C delins
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.700 1.000 3 1995 1997
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
0.925 0.040 2 222221300 frameshift variant -/C delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0