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: rs2855268
rs2855268
PAX3
3 0.882 0.040 2 222202200 intron variant C/G;T snv 0.11; 2.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs3768080
rs3768080
NID1
3 0.882 0.040 1 236016569 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs397507482
rs397507482
BRAF
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs6754024
rs6754024
PAX3 ; CCDC140
3 0.882 0.040 2 222297305 intron variant T/G snv 0.85 0.010 1.000 1 2013 2013
dbSNP: rs755660650
rs755660650
SLCO6A1
5 0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2002 2002