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: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 1.000 7 2013 2016
dbSNP: rs672601334
rs672601334
RIT1
18 0.752 0.400 1 155904798 missense variant G/C snv 0.710 1.000 7 2013 2019
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 5 2000 2010
dbSNP: rs869025189
rs869025189
RIT1
2 0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06 0.700 1.000 5 2013 2016
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs672601335
rs672601335
RIT1
3 0.882 0.160 1 155904456 missense variant C/G snv 0.700 1.000 4 2013 2014
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 1.000 3 2014 2016
dbSNP: rs869025193
rs869025193
RIT1
2 0.925 0.160 1 155904498 missense variant T/C snv 0.700 1.000 3 2013 2016
dbSNP: rs267606921
rs267606921
NRAS
3 0.882 0.160 1 114713941 missense variant G/A snv 0.700 1.000 2 2010 2011
dbSNP: rs267606920
rs267606920
NRAS
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs746830376
rs746830376
EPHB2
4 0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs869025194
rs869025194
RIT1
4 0.882 0.280 1 155904496 missense variant A/C;G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs869025196
rs869025196
RIT1
1 1.000 0.160 1 155904489 missense variant G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs869025190
rs869025190
RIT1
1 1.000 0.160 1 155910462 missense variant C/A snv 0.700 0
dbSNP: rs869025192
rs869025192
RIT1
1 1.000 0.160 1 155904499 missense variant C/G snv 0.700 0
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
dbSNP: rs869025197
rs869025197
RIT1
2 0.925 0.160 1 155904475 missense variant A/G snv 0.700 0
dbSNP: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2007 2018
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.710 0.875 8 2007 2014
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 1.000 8 2007 2014
dbSNP: rs397517159
rs397517159
SOS1
4 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 7 2007 2013
dbSNP: rs397517164
rs397517164
SOS1
2 0.925 0.160 2 39058696 missense variant C/T snv 0.700 1.000 7 2007 2014
dbSNP: rs397517147
rs397517147
SOS1
3 0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06 0.700 1.000 6 2007 2010
dbSNP: rs137852812
rs137852812
SOS1
4 0.851 0.200 2 39051211 missense variant G/T snv 0.700 1.000 5 2007 2010