Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045167
rs797045167
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
0.800 GeneticVariation UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
dbSNP: rs797045167
rs797045167
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
C 0.800 GeneticVariation CLINVAR Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
dbSNP: rs797045167
rs797045167
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
C 0.800 GeneticVariation CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015
dbSNP: rs797045167
rs797045167
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
T 0.800 CausalMutation CLINVAR
dbSNP: rs869320687
rs869320687
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
0.800 GeneticVariation UNIPROT
dbSNP: rs869320687
rs869320687
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
C 0.800 CausalMutation CLINVAR
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0005612
Disease:
Birth Weight
C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs61755579
rs61755579
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0040420
Disease:
Tonometry
C 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs61755579
rs61755579
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0040420
Disease:
Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs72681869
rs72681869
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0040420
Disease:
Tonometry
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs1442962879
rs1442962879
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
0.700 GeneticVariation UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
dbSNP: rs147168872
rs147168872
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0037369
Disease:
Smoking
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs147168872
rs147168872
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C1519383
Disease:
Smoking Behaviors
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs373233749
rs373233749
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4225282
Disease:
NOONAN SYNDROME 9
0.700 GeneticVariation UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
dbSNP: rs869320687
rs869320687
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4551602
Disease:
Noonan Syndrome 1
C 0.700 GeneticVariation CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015