SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057519667 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519668 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519669 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519670 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519671 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519672 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519673 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519674 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519675 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS1057519676 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057519677 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057519679 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519682 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519683 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519685 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519686 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519687 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519690 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519691 PCSK9 Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1057519697 ALK Health Risk Likely pathogenic ALK-related disorder, Neuroblastoma
RS1057519698 ALK Health Risk Pathogenic Neuroblastoma, Neuroblastoma
RS1057519708 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Germinomatous germ cell tumor
RS1057519710 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1057519713 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Germ cell tumor of testis
RS1057519718 BRAF Health Risk Likely pathogenic Gallbladder cancer, Gallbladder cancer
RS1057519724 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Neoplasm
RS1057519725 KRAS Health Risk Pathogenic/Likely pathogenic OCULOECTODERMAL SYNDROME, SOMATIC
RS1057519729 MAP2K1 Health Risk Pathogenic Non-small cell lung carcinoma, Melorheostosis
RS1057519730 MAP2K1 Health Risk Pathogenic RASopathy, RASopathy
RS1057519732 MAP2K1 Health Risk Likely pathogenic Noonan syndrome, Cardiofaciocutaneous syndrome 3
RS1057519733 MAP2K1 Health Risk Pathogenic Inborn genetic diseases, Cardiofaciocutaneous syndrome 3
RS1057519736 IDH2 Health Risk Pathogenic Acute myocardial infarction, Vascular malformation
RS1057519739 SMAD4 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1057519742 GNA11 Health Risk Pathogenic See cases, Neoplasm
RS1057519747 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Adrenocortical carcinoma
RS1057519748 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Inborn genetic diseases
RS1057519749 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1057519750 RUNX1 Health Risk Likely pathogenic Acute myeloid leukemia, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1057519751 RUNX1 Health Risk Pathogenic Abnormal platelet function, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1057519757 PIK3R1 Health Risk Pathogenic Vascular Malformations and Overgrowth, Neoplasm
RS1057519779 MTOR Health Risk Pathogenic Isolated focal cortical dysplasia type II, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS1057519784 ALK Health Risk Likely pathogenic Lung cancer, Lung cancer
RS1057519787 ERBB2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1057519788 ROS1 Health Risk Pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1057519801 PIK3R2 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
RS1057519805 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous syndrome 3
RS1057519806 MAP2K2 Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome
RS1057519816 ERBB2 Health Risk Pathogenic —
RS1057519825 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, Malignant lymphoma
RS1057519826 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1057519838 PIK3R1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS1057519841 PIK3R1 Health Risk Pathogenic Vascular Malformations and Overgrowth, Vascular malformation
RS1057519852 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1057519879 B2M Health Risk Likely pathogenic Amyloidosis, hereditary systemic 6
RS1057519881 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057519882 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1057519884 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1057519893 ERBB3 Health Risk Pathogenic Malignant tumor of urinary bladder, Neoplasm
RS1057519896 FBXW7 Health Risk Conflicting classifications of pathogenicity —
RS1057519906 IDH2 Health Risk Likely pathogenic Acute myocardial infarction, Neoplasm
RS1057519909 MAP2K1 Health Risk Pathogenic —
RS1057519910 MAP2K2 Health Risk Pathogenic RASopathy, RASopathy
RS1057519911 MAPK1 Health Risk Pathogenic/Likely pathogenic 6 conditions, Noonan syndrome 13
RS1057519914 MTOR Health Risk Pathogenic Hemimegalencephaly, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS1057519915 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1057519917 MTOR Health Risk Likely pathogenic —
RS1057519922 NFE2L2 Health Risk Pathogenic Immunodeficiency, developmental delay
RS1057519925 PIK3CA Health Risk Pathogenic Ovarian neoplasm, Megalencephaly-capillary malformation-polymicrogyria syndrome
RS1057519927 PIK3CA Health Risk Likely pathogenic Lip and oral cavity carcinoma, Inborn genetic diseases
RS1057519929 PIK3CA Health Risk Pathogenic Abnormal cardiovascular system morphology, CLOVES syndrome
RS1057519930 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, CLOVES syndrome
RS1057519933 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome 5, PIK3CA related overgrowth syndrome
RS1057519936 PIK3CA Health Risk Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome
RS1057519938 PIK3CA Health Risk Pathogenic Noonan syndrome 8, Megalencephaly-capillary malformation-polymicrogyria syndrome
RS1057519941 PIK3CA Health Risk Likely pathogenic Ovarian neoplasm, Neoplasm
RS1057519942 PIK3CA Health Risk Pathogenic Cowden syndrome, Cowden syndrome 5
RS1057519943 POLE Health Risk Conflicting classifications of pathogenicity Programmed death ligand-1 (PD-L1) blocking antibody response, Endometrioid adenocarcinoma
RS1057519945 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, POLE-related disorder
RS1057519946 PPP2R1A Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Colon adenocarcinoma
RS1057519947 PPP2R1A Health Risk Likely pathogenic Houge-Janssens syndrome 2, Intellectual disability
RS1057519950 RHEB Health Risk Pathogenic —
RS1057519961 SF3B1 Health Risk Likely pathogenic See cases, See cases
RS1057519963 SOS1 Health Risk Likely pathogenic Noonan syndrome 4, Noonan syndrome 4
RS1057519975 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1057519976 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519977 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057519978 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519980 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519981 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057519982 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS1057519983 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057519984 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1057519985 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519986 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1057519987 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519988 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS1057519989 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Familial cancer of breast
RS1057519990 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519991 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Ovarian neoplasm
RS1057519992 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
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