Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045167
rs797045167
1.000 14 50182521 missense variant A/C;G;T snv
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9
0.800 1.000 2 2015 2015
dbSNP: rs869320687
rs869320687
0.925 0.160 14 50161551 missense variant G/C snv
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9
0.800 0
dbSNP: rs61755579
rs61755579
14 50188589 missense variant C/A;T snv 3.7E-05; 1.8E-02
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 2 2018 2018
dbSNP: rs1442962879
rs1442962879
1.000 14 50130563 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9
0.700 1.000 1 2015 2015
dbSNP: rs147168872
rs147168872
14 50173277 intron variant A/C snv 5.0E-03
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs147168872
rs147168872
14 50173277 intron variant A/C snv 5.0E-03
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs373233749
rs373233749
1.000 14 50174521 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9
0.700 1.000 1 2015 2015
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs869320687
rs869320687
0.925 0.160 14 50161551 missense variant G/C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015