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
RS1567533467 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567533723 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS1567537296 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, Inborn genetic diseases
RS1567537304 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1567537413 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1567538216 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1567539396 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS1567540504 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567541951 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567541975 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS1567542019 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS1567542020 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1567542031 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567542043 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567542146 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567542245 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567542299 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567542535 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1567543920 ANKRD11 Health Risk Pathogenic —
RS1567544188 TK2 Health Risk Pathogenic —
RS1567545918 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567546196 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1567546226 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567546373 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567546716 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1567546818 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567546889 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567547030 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567547066 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567547614 FBRS Health Risk Likely pathogenic Short stature, Short stature
RS1567547661 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Neoplasm
RS1567547687 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567547721 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567547933 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567547965 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567548114 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567548223 TP53 Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567548789 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567548832 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567549129 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567549203 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1567549353 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Pleuropulmonary blastoma
RS1567549584 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck
RS1567549651 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567549676 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567550002 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1567550018 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, TP53-related disorder
RS1567550076 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567550969 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567551073 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567551150 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1567551279 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567551402 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567551704 TP53 Health Risk Likely pathogenic Small cell carcinoma of the ovary, hypercalcemic type
RS1567551718 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567551821 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567551854 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567552031 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567552329 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1567552459 TP53 Health Risk Likely pathogenic —
RS1567552467 TP53 Health Risk Likely pathogenic —
RS1567552536 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567552584 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Prostate cancer
RS1567552637 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567552713 MYH3 Health Risk Pathogenic Contractures, pterygia
RS1567552753 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567552847 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567553148 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567553215 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567553246 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1567553501 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567553514 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567553613 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567553658 TP53 Health Risk Pathogenic Ovarian neoplasm, Lung sarcomatoid carcinoma
RS1567553717 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567553783 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS1567553834 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567553924 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567554216 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567554408 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Prostate cancer
RS1567554500 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567554542 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567554574 PAFAH1B1 Health Risk Pathogenic —
RS1567555007 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567555445 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567555504 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567555667 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS1567555735 MYH3 Health Risk Pathogenic —
RS1567555883 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1567555907 TP53 Health Risk Pathogenic —
RS1567555934 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1567555939 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567555968 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1567555994 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567556006 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Malignant tumor of esophagus
RS1567556114 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567556123 TP53 Health Risk Pathogenic Ovarian neoplasm, Neoplasm
RS1567556165 TP53 Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1567556169 MYH3 Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1567556270 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
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