PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893653
rs104893653
1.000 0.040 2 222297160 missense variant T/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 4 1993 2003
dbSNP: rs104893650
rs104893650
1.000 0.040 2 222297150 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1228590199
rs1228590199
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1380858784
rs1380858784
1.000 0.040 2 222221369 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1553593928
rs1553593928
1.000 0.040 2 222297081 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs267606931
rs267606931
1.000 0.040 2 222297132 missense variant C/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs387906947
rs387906947
1.000 0.040 2 222297061 missense variant G/C snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs587776586
rs587776586
1.000 0.040 2 222297057 missense variant C/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs104893651
rs104893651
0.925 0.040 2 222297048 missense variant G/A snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 1993 2003
dbSNP: rs104893654
rs104893654
1.000 0.040 2 222297031 missense variant A/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 1993 2003
dbSNP: rs1419548558
rs1419548558
1.000 0.040 2 222297157 missense variant C/A;G;T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 2 2014 2018
dbSNP: rs104893652
rs104893652
1.000 0.200 2 222297158 missense variant G/C snv
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1996 1996
dbSNP: rs774528745
rs774528745
1.000 0.040 2 222221368 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2014 2014
dbSNP: rs1189463428
rs1189463428
1.000 0.040 2 222297003 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1992 2012
dbSNP: rs1228590199
rs1228590199
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1993 2003
dbSNP: rs1553572967
rs1553572967
0.925 0.040 2 222221300 frameshift variant -/C delins
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1995 1997
dbSNP: rs876657717
rs876657717
1.000 0.040 2 222232202 missense variant C/T snv 4.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1992 2015
dbSNP: rs1020175890
rs1020175890
1.000 0.040 2 222221362 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2014 2014
dbSNP: rs12618431
rs12618431
2 222245793 intron variant A/G snv 0.11
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs12618491
rs12618491
2 222268789 intron variant C/A snv 0.38
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs13017777
rs13017777
2 222204906 intron variant T/C snv 0.37
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs1553575159
rs1553575159
1.000 0.040 2 222232080 stop gained G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1553575179
rs1553575179
1.000 0.040 2 222232131 frameshift variant AATGTCAGGGTAA/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1553592766
rs1553592766
1.000 0.040 2 222294289 frameshift variant C/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1553593965
rs1553593965
1.000 0.040 2 222297139 inframe deletion GTTGGGCAGCGG/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018