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: rs104893653
rs104893653
PAX3 ; CCDC140
1 1.000 0.040 2 222297160 missense variant T/G snv 0.810 1.000 4 1993 2003
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
2 0.925 0.040 2 222297048 missense variant G/A snv 0.800 1.000 3 1993 2003
dbSNP: rs104893654
rs104893654
PAX3 ; CCDC140
1 1.000 0.040 2 222297031 missense variant A/G snv 0.800 1.000 3 1993 2003
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
2 0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 3 1993 2003
dbSNP: rs1559318494
rs1559318494
PAX3
1 1.000 0.040 2 222295581 frameshift variant TTTCCCAGCTGAA/- delins 0.700 0