Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893650
rs104893650
PAX3 ; CCDC140
1 1.000 0.040 2 222297150 missense variant G/A snv 0.800 1.000 20 1992 2014
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
2 0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 20 1992 2014
dbSNP: rs1380858784
rs1380858784
PAX3 ; LOC107985991
1 1.000 0.040 2 222221369 missense variant G/A snv 0.800 1.000 20 1992 2014
dbSNP: rs1553593928
rs1553593928
PAX3 ; CCDC140
1 1.000 0.040 2 222297081 missense variant G/A snv 0.800 1.000 20 1992 2014
dbSNP: rs267606931
rs267606931
PAX3 ; CCDC140
1 1.000 0.040 2 222297132 missense variant C/A snv 0.800 1.000 20 1992 2014
dbSNP: rs387906947
rs387906947
PAX3 ; CCDC140
1 1.000 0.040 2 222297061 missense variant G/C snv 0.800 1.000 20 1992 2014
dbSNP: rs587776586
rs587776586
PAX3 ; CCDC140
1 1.000 0.040 2 222297057 missense variant C/G snv 0.800 1.000 20 1992 2014
dbSNP: rs1419548558
rs1419548558
PAX3 ; CCDC140
1 1.000 0.040 2 222297157 missense variant C/A;G;T snv 0.800 1.000 2 2014 2018
dbSNP: rs774528745
rs774528745
PAX3 ; LOC107985991
1 1.000 0.040 2 222221368 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs1189463428
rs1189463428
PAX3 ; CCDC140
1 1.000 0.040 2 222297003 missense variant C/T snv 0.700 1.000 19 1992 2012
dbSNP: rs1020175890
rs1020175890
PAX3 ; LOC107985991
1 1.000 0.040 2 222221362 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1553575159
rs1553575159
PAX3
1 1.000 0.040 2 222232080 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1553575179
rs1553575179
PAX3
1 1.000 0.040 2 222232131 frameshift variant AATGTCAGGGTAA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1553592766
rs1553592766
PAX3
1 1.000 0.040 2 222294289 frameshift variant C/- del 0.700 1.000 1 2018 2018
dbSNP: rs1553593965
rs1553593965
PAX3 ; CCDC140
1 1.000 0.040 2 222297139 inframe deletion GTTGGGCAGCGG/- delins 0.700 1.000 1 2018 2018
dbSNP: rs773327091
rs773327091
PAX3 ; CCDC140
1 1.000 0.040 2 222297175 missense variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
2 0.925 0.040 2 222297048 missense variant G/A snv 0.700 0
dbSNP: rs1356246522
rs1356246522
PAX3 ; CCDC140
1 1.000 0.040 2 222297089 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1379006499
rs1379006499
PAX3
1 1.000 0.040 2 222294310 intron variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs147111779
rs147111779
PAX3
1 1.000 0.040 2 222202134 stop gained G/A;C snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs1553568831
rs1553568831
PAX3
1 1.000 0.040 2 222201988 frameshift variant -/TGTA delins 0.700 0
dbSNP: rs1553572740
rs1553572740
PAX3 ; LOC107985991
1 1.000 0.040 2 222220292 stop gained G/A snv 0.700 0
dbSNP: rs1553572946
rs1553572946
PAX3 ; LOC107985991
1 1.000 0.040 2 222221259 frameshift variant C/- del 0.700 0
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
2 0.925 0.040 2 222221300 frameshift variant -/C delins 0.700 0
dbSNP: rs1553575157
rs1553575157
PAX3
1 1.000 0.040 2 222232079 missense variant T/G snv 0.700 0