Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1223430276
rs1223430276
1.000 22 20991684 missense variant G/A snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.800 1.000 6 2006 2019
dbSNP: rs587777177
rs587777177
1.000 22 20987548 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.800 1.000 6 2014 2019
dbSNP: rs587777178
rs587777178
0.925 0.080 22 20995865 missense variant C/T snv 4.4E-05 6.3E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.800 1.000 6 2014 2019
dbSNP: rs587777180
rs587777180
1.000 22 20993967 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.800 1.000 6 2014 2019
dbSNP: rs797045165
rs797045165
0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.800 1.000 6 2015 2019
dbSNP: rs797045165
rs797045165
0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.800 1.000 6 2014 2019
dbSNP: rs797045166
rs797045166
1.000 22 20990474 missense variant G/A snv
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.800 1.000 6 2015 2019
dbSNP: rs762834512
rs762834512
1.000 0.160 22 20996740 missense variant G/A snv 4.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.800 1.000 4 2010 2019
dbSNP: rs1419388177
rs1419388177
1.000 22 20996754 missense variant T/C snv 8.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 1.000 6 2014 2019
dbSNP: rs753757778
rs753757778
1.000 22 20993964 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 1.000 6 2014 2019
dbSNP: rs767354230
rs767354230
1.000 22 20992819 missense variant C/T snv 2.1E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 1.000 6 2014 2019
dbSNP: rs776005012
rs776005012
1.000 22 20995805 stop lost G/T snv 8.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 1.000 6 2014 2019
dbSNP: rs781431741
rs781431741
1.000 22 20988118 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 1.000 6 2014 2019
dbSNP: rs1275511136
rs1275511136
1.000 0.160 22 20997287 missense variant T/C;G snv
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 1.000 3 2018 2019
dbSNP: rs1287917092
rs1287917092
1.000 0.160 22 20989645 missense variant T/C snv 8.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 1.000 3 2018 2019
dbSNP: rs1327579827
rs1327579827
1.000 0.160 22 20995995 missense variant C/A;G snv
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 1.000 3 2018 2019
dbSNP: rs776893978
rs776893978
22 20997253 missense variant C/T snv 4.4E-05 9.1E-05
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
0.700 1.000 1 2018 2018
dbSNP: rs1374240053
rs1374240053
1.000 0.160 22 20994629 stop gained G/A;C;T snv 4.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 0
dbSNP: rs1470449160
rs1470449160
1.000 22 20992854 missense variant G/A snv 4.1E-06 1.4E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 0
dbSNP: rs370638947
rs370638947
1.000 0.160 22 20995983 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 0
dbSNP: rs751516987
rs751516987
1.000 22 20995982 missense variant C/T snv 2.4E-05 6.3E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 0
dbSNP: rs757502214
rs757502214
1.000 0.160 22 20988117 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
0.700 0
dbSNP: rs773016962
rs773016962
1.000 22 20991692 missense variant G/A snv 8.8E-06 1.4E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 0
dbSNP: rs773059569
rs773059569
1.000 22 20997260 missense variant T/C snv 8.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
0.700 0
dbSNP: rs869320686
rs869320686
0.882 22 20990476 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
0.700 0