Source: CURATED ×
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 0.700 0
dbSNP: rs730882205
rs730882205
ZNF526
2 1.000 0.040 19 42224882 missense variant A/C snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;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: rs121918459
rs121918459
PTPN11
46 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121918466
rs121918466
PTPN11
12 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs121913355
rs121913355
BRAF
34 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
16 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
13 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121918462
rs121918462
PTPN11
8 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
9 0.882 0.080 X 41210540 stop gained C/T snv 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0