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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2011 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2011 2013
dbSNP: rs751563679
rs751563679
CCNH ; RASA1
1 1.000 0.120 5 87389444 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.030 0.667 3 2011 2019
dbSNP: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs917570055
rs917570055
GZMM
7 0.882 0.360 19 547342 start lost A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2008 2008
dbSNP: rs868408509
rs868408509
LAMA2
6 0.827 0.160 6 128883315 missense variant C/G;T snv 4.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs63750899
rs63750899
MLH1
7 0.851 0.200 3 37048562 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63751615
rs63751615
MLH1
6 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs773647920
rs773647920
MLH1
5 1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1421234927
rs1421234927
MRC1
1 1.000 0.120 10 17902044 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs35857561
rs35857561
MRVI1
2 0.925 0.160 11 10628820 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs768824654
rs768824654
MSH2
6 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs137854556
rs137854556
NF1
5 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.800 1.000 37 1990 2016
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 34 1990 2016
dbSNP: rs199474742
rs199474742
NF1
2 1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs199474747
rs199474747
NF1
3 0.925 0.120 17 31229155 missense variant T/C;G snv 0.800 1.000 32 1990 2018
dbSNP: rs199474760
rs199474760
NF1
1 1.000 0.120 17 31223470 missense variant A/G snv 0.800 1.000 31 1990 2016
dbSNP: rs199474738
rs199474738
NF1
2 1.000 0.120 17 31225134 missense variant G/A;C snv 4.0E-06 0.800 1.000 30 1990 2014
dbSNP: rs199474732
rs199474732
NF1
1 1.000 0.120 17 31233115 missense variant C/G;T snv 4.0E-06 0.800 1.000 29 1990 2016
dbSNP: rs137854566
rs137854566
NF1
1 1.000 0.120 17 31229146 missense variant T/C;G snv 4.0E-06 0.800 1.000 28 1990 2018