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: rs1020175890
rs1020175890
PAX3 ; LOC107985991
1.000 0.040 2 222221362 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2014 2014
dbSNP: rs104893650
rs104893650
PAX3 ; CCDC140
1.000 0.040 2 222297150 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
0.925 0.040 2 222297048 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1189463428
rs1189463428
PAX3 ; CCDC140
1.000 0.040 2 222297003 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 19 1992 2012
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: rs1356246522
rs1356246522
PAX3 ; CCDC140
1.000 0.040 2 222297089 stop gained G/A;T snv 4.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1379006499
rs1379006499
PAX3
1.000 0.040 2 222294310 intron variant G/A;T snv 7.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1380858784
rs1380858784
PAX3 ; LOC107985991
1.000 0.040 2 222221369 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs1419548558
rs1419548558
PAX3 ; CCDC140
1.000 0.040 2 222297157 missense variant C/A;G;T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 2 2014 2018
dbSNP: rs147111779
rs147111779
PAX3
1.000 0.040 2 222202134 stop gained G/A;C snv 2.8E-05 2.1E-05
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553568831
rs1553568831
PAX3
1.000 0.040 2 222201988 frameshift variant -/TGTA delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553572740
rs1553572740
PAX3 ; LOC107985991
1.000 0.040 2 222220292 stop gained G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553572946
rs1553572946
PAX3 ; LOC107985991
1.000 0.040 2 222221259 frameshift variant C/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
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
dbSNP: rs1553575157
rs1553575157
PAX3
1.000 0.040 2 222232079 missense variant T/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553575159
rs1553575159
PAX3
1.000 0.040 2 222232080 stop gained G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2018 2018
dbSNP: rs1553575179
rs1553575179
PAX3
1.000 0.040 2 222232131 frameshift variant AATGTCAGGGTAA/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2018 2018
dbSNP: rs1553575191
rs1553575191
PAX3
1.000 0.040 2 222232178 missense variant A/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553592703
rs1553592703
PAX3
1.000 0.040 2 222294222 frameshift variant -/AG ins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553592713
rs1553592713
PAX3
1.000 0.040 2 222294228 frameshift variant -/T delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553592757
rs1553592757
PAX3
1.000 0.040 2 222294269 frameshift variant ATT/TA delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553592766
rs1553592766
PAX3
1.000 0.040 2 222294289 frameshift variant C/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2018 2018
dbSNP: rs1553593874
rs1553593874
PAX3 ; CCDC140
1.000 0.040 2 222297030 missense variant T/C snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553593917
rs1553593917
PAX3 ; CCDC140
1.000 0.040 2 222297067 missense variant C/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1553593928
rs1553593928
PAX3 ; CCDC140
1.000 0.040 2 222297081 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014