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: 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: 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: 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: 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: 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: 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: rs1559316535
rs1559316535
PAX3
1.000 0.040 2 222294194 frameshift variant GT/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1559316542
rs1559316542
PAX3
1.000 0.040 2 222294197 frameshift variant G/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs1559318562
rs1559318562
PAX3
1.000 0.040 2 222295610 frameshift variant CTTTT/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs369886550
rs369886550
PAX3
1.000 0.040 2 222202087 stop gained G/A;C;T snv 2.0E-05; 4.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs876661317
rs876661317
PAX3
1.000 0.040 2 222295564 stop gained T/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
dbSNP: rs886041319
rs886041319
PAX3
1.000 0.040 2 222232086 stop gained G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 0
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: 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
dbSNP: rs267606931
rs267606931
PAX3 ; CCDC140
1.000 0.040 2 222297132 missense variant C/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs387906947
rs387906947
PAX3 ; CCDC140
1.000 0.040 2 222297061 missense variant G/C snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs587776586
rs587776586
PAX3 ; CCDC140
1.000 0.040 2 222297057 missense variant C/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
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: 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: rs1553593965
rs1553593965
PAX3 ; CCDC140
1.000 0.040 2 222297139 inframe deletion GTTGGGCAGCGG/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2018 2018