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: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs137854561
rs137854561
NF1
2 0.925 0.120 17 31336750 missense variant T/C snv 0.010 1.000 1 2001 2001
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: rs1801052
rs1801052
NF1
1 1.000 0.120 17 31181757 synonymous variant G/A;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
4 0.851 0.240 12 112419116 missense variant C/T snv 0.010 1.000 1 2009 2009
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: rs35690297
rs35690297
PMS2
5 1.000 0.120 7 6002584 start lost T/A;C snv 0.010 1.000 1 2009 2009
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: rs397514640
rs397514640
PAX6
4 0.882 0.160 11 31802733 missense variant G/A snv 0.010 < 0.001 1 2007 2007
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: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.010 1.000 1 2009 2009
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: 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: rs768366978
rs768366978
NF1
5 0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
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: 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: 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: rs777369021
rs777369021
NF1
1 1.000 0.120 17 31200538 synonymous variant T/C snv 8.4E-05 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs786202567
rs786202567
PMS2
5 1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
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: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs899638423
rs899638423
RASA1
1 1.000 0.120 5 87268495 missense variant C/T snv 7.1E-06 0.010 1.000 1 2009 2009
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