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: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs10754833
rs10754833
NID1
4 0.851 0.040 1 236021631 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs11275300
rs11275300
DTL
2 0.925 0.040 1 212104247 3 prime UTR variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2015 2015
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: 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: 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: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.030 1.000 3 2014 2017
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: 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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs12203952
rs12203952 		3 0.882 0.040 6 62856909 intergenic variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.955 22 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.952 21 2004 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs397507482
rs397507482
BRAF
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
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: 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
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs1384270958
rs1384270958
FGFR2
1 1.000 0.040 10 121500883 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017