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: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs180177034
rs180177034
BRAF
3 0.882 0.200 7 140801536 missense variant C/G snv 0.700 0
dbSNP: rs180177042
rs180177042
BRAF
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs387906660
rs387906660
BRAF
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
dbSNP: rs387906661
rs387906661
BRAF
6 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
dbSNP: rs397507466
rs397507466
BRAF
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs397516895
rs397516895
BRAF
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 0
dbSNP: rs606231228
rs606231228
BRAF
2 0.925 0.160 7 140777013 missense variant C/A;G snv 0.700 0
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
3 0.882 0.160 15 66436818 missense variant A/G snv 0.700 0
dbSNP: rs267606920
rs267606920
NRAS
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs267606921
rs267606921
NRAS
3 0.882 0.160 1 114713941 missense variant G/A snv 0.700 0
dbSNP: rs397514553
rs397514553
NRAS
2 0.925 0.200 1 114716060 missense variant G/A snv 0.700 0
dbSNP: rs869025573
rs869025573
NRAS
2 1.000 0.160 1 114716090 missense variant A/T snv 0.700 0
dbSNP: rs564251686
rs564251686
PLAAT4
1 1.000 0.160 11 63544632 missense variant G/A snv 4.4E-05 6.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 35 2001 2017
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 35 2001 2018
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.800 1.000 21 2001 2017
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.800 1.000 18 2001 2019
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 17 2001 2017
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 17 2001 2017