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: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.800 1.000 17 2001 2017
dbSNP: rs397507525
rs397507525
PTPN11
2 0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06 0.700 1.000 17 2001 2017
dbSNP: rs397507526
rs397507526
PTPN11
1 1.000 0.160 12 112472972 missense variant T/A;G snv 0.700 1.000 17 2001 2017
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 17 2001 2017
dbSNP: rs397507539
rs397507539
PTPN11
8 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 17 2001 2017
dbSNP: rs397507543
rs397507543
PTPN11
2 0.925 0.160 12 112489078 missense variant G/A snv 0.700 1.000 17 2001 2017
dbSNP: rs201787206
rs201787206
PTPN11
1 1.000 0.160 12 112477722 missense variant A/G snv 5.0E-04 2.5E-04 0.700 1.000 15 2001 2017
dbSNP: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.800 1.000 15 2001 2017
dbSNP: rs397516797
rs397516797
PTPN11
1 1.000 0.160 12 112502222 missense variant C/T snv 4.0E-05 7.0E-05 0.700 1.000 15 2001 2017
dbSNP: rs886043790
rs886043790
PTPN11
1 1.000 0.160 12 112450355 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 15 2001 2017
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.800 1.000 2 2010 2014
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: rs869320687
rs869320687
SOS2
2 0.925 0.160 14 50161551 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs1557962794
rs1557962794
RIT1
4 0.882 0.160 1 155910693 missense variant T/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: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs397507524
rs397507524
PTPN11
1 1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins 0.700 0
dbSNP: rs397507540
rs397507540
PTPN11
8 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
dbSNP: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397516801
rs397516801
PTPN11
2 0.925 0.160 12 112450389 missense variant A/G snv 0.700 0
dbSNP: rs397517150
rs397517150
SOS1
7 0.827 0.160 2 39023118 missense variant A/C;G 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: rs672601335
rs672601335
RIT1
3 0.882 0.160 1 155904456 missense variant C/G snv 0.700 0