Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913237
rs121913237
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR

dbSNP: rs397514553
rs397514553
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
A 0.800 CausalMutation CLINVAR

dbSNP: rs267606921
rs267606921
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
A 0.800 CausalMutation CLINVAR

dbSNP: rs267606920
rs267606920
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913237
rs121913237
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
T 0.800 CausalMutation CLINVAR

dbSNP: rs121434595
rs121434595
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
G 0.800 CausalMutation CLINVAR

dbSNP: rs121434595
rs121434595
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
G 0.800 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2
C 0.800 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis
C 0.800 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
C 0.800 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
C 0.800 CausalMutation CLINVAR

dbSNP: rs869025573
rs869025573
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514553
rs397514553
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606921
rs267606921
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606920
rs267606920
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
T 0.700 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
C 0.700 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
C 0.700 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
C 0.700 CausalMutation CLINVAR Mechanism of activation of an N-ras oncogene of SW-1271 human lung carcinoma cells. 6587382

1984

dbSNP: rs121913237
rs121913237
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 GeneticVariation CLINVAR RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. 3122217

1987

dbSNP: rs11554290
rs11554290
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.710 GeneticVariation CLINVAR RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. 3122217

1987

dbSNP: rs121913250
rs121913250
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. 3122217

1987

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989