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: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.800 1.000 0 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 0 2001 2017
dbSNP: rs397507545
rs397507545
PTPN11
16 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 0 2001 2017
dbSNP: rs121918457
rs121918457
PTPN11
18 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2017
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: rs121918464
rs121918464
PTPN11
7 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 0
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
dbSNP: rs180177042
rs180177042
BRAF
7 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs267606706
rs267606706
CBL
6 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs267606920
rs267606920
NRAS
2 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: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G 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: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0