Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
T 0.900 CausalMutation CLINVAR

dbSNP: rs180177037
rs180177037
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
C 0.810 CausalMutation CLINVAR

dbSNP: rs869025606
rs869025606
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
C 0.800 CausalMutation CLINVAR

dbSNP: rs606231228
rs606231228
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
G 0.800 CausalMutation CLINVAR

dbSNP: rs387906661
rs387906661
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
G 0.800 CausalMutation CLINVAR

dbSNP: rs180177042
rs180177042
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
T 0.800 GeneticVariation CLINVAR

dbSNP: rs180177042
rs180177042
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
T 0.800 CausalMutation CLINVAR

dbSNP: rs180177033
rs180177033
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
C 0.800 CausalMutation CLINVAR

dbSNP: rs180177032
rs180177032
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913375
rs121913375
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913369
rs121913369
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913364
rs121913364
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913357
rs121913357
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
G 0.800 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
G 0.800 CausalMutation CLINVAR

dbSNP: rs121913348
rs121913348
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913338
rs121913338
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
C 0.800 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
T 0.800 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
T 0.710 CausalMutation CLINVAR

dbSNP: rs869025607
rs869025607
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
C 0.700 CausalMutation CLINVAR

dbSNP: rs794729219
rs794729219
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727504375
rs727504375
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727504375
rs727504375
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727502904
rs727502904
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727502904
rs727502904
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727502902
rs727502902
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma
TGTA 0.700 CausalMutation CLINVAR