Source: CLINVAR

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: rs730881014
rs730881014
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs121918462
rs121918462
0.742 0.320 12 112450398 missense variant C/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 21 2001 2017
dbSNP: rs28933386
rs28933386
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 19 2001 2018
dbSNP: rs121918457
rs121918457
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 1.000 5 2002 2017
dbSNP: rs397507549
rs397507549
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 5 2001 2017
dbSNP: rs397507547
rs397507547
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 1 2001 2019
dbSNP: rs869320687
rs869320687
0.925 0.160 14 50161551 missense variant G/C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 1.000 1 2015 2015
dbSNP: rs104894228
rs104894228
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs113954997
rs113954997
0.882 0.280 11 14294844 missense variant T/A;C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs121913369
rs121913369
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs121918453
rs121918453
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918454
rs121918454
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918455
rs121918455
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918456
rs121918456
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918458
rs121918458
0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918459
rs121918459
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918463
rs121918463
0.851 0.240 12 112477651 missense variant T/A;C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918464
rs121918464
0.708 0.440 12 112450406 missense variant G/A;C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs121918466
rs121918466
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918467
rs121918467
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918470
rs121918470
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs137852812
rs137852812
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0