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: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.700 1.000 3 1993 2003