Source: CLINVAR ×
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: rs121918462
rs121918462
PTPN11
8 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 21 2001 2017
dbSNP: rs397507549
rs397507549
PTPN11
6 0.742 0.240 12 112489104 missense variant C/A;G snv 0.800 1.000 5 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 1 2001 2019
dbSNP: rs869320687
rs869320687
SOS2
2 0.925 0.160 14 50161551 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
dbSNP: rs113954997
rs113954997
RRAS2
2 0.882 0.280 11 14294844 missense variant T/A;C 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: rs121913369
rs121913369
BRAF
8 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121918453
rs121918453
PTPN11
15 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 0 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
16 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 0 2001 2017
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 0 2001 2017
dbSNP: rs121918456
rs121918456
PTPN11
11 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 0 2001 2017
dbSNP: rs121918458
rs121918458
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.800 1.000 0 2001 2017
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.800 1.000 0 2001 2017
dbSNP: rs121918461
rs121918461
PTPN11
8 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 0 2001 2017
dbSNP: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.800 1.000 0 2001 2017
dbSNP: rs121918464
rs121918464
PTPN11
7 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
12 0.752 0.280 12 112450416 missense variant A/G snv 0.800 1.000 0 2001 2017
dbSNP: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.800 1.000 0 2001 2017
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs137852812
rs137852812
SOS1
4 0.851 0.200 2 39051211 missense variant G/T snv 0.700 0
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 0
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C 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: rs180177034
rs180177034
BRAF
3 0.882 0.200 7 140801536 missense variant C/G snv 0.700 0