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
RS2139977488 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2139985474 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139985624 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2139986793 DICER1 Health Risk Pathogenic —
RS2139987544 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139994024 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139994161 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Euthyroid goiter
RS2139994282 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2139995462 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2139996044 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139996377 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139996434 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140000781 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140001131 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140001505 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140001660 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140001750 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140003018 GPHN Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2140004149 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2140004287 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2140016050 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140016054 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140016089 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140016243 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140020024 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140020153 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140023956 TTLL5 Health Risk Pathogenic —
RS2140024253 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140025115 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140025249 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140025659 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140025853 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140025976 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2140030983 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140032822 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140033227 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140034098 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140037322 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS2140038700 MARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease axonal type 2U
RS2140038749 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2140038798 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2140038831 GCH1 Health Risk Likely pathogenic —
RS2140038846 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS2140038918 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia
RS2140038951 GCH1 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2140039094 SPTLC2 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2140041673 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2140041733 GCH1 Health Risk Pathogenic/Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS2140041744 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS2140041841 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2140041858 GCH1 Health Risk Likely pathogenic —
RS2140063480 GCH1 Health Risk Pathogenic/Likely pathogenic Dystonia 5, Dystonic disorder
RS2140066644 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140066737 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140067347 DICER1 Health Risk Pathogenic —
RS2140067638 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140067853 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2140067871 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS2140068325 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140068631 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140069494 VPS13C Health Risk Pathogenic —
RS2140069931 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140071850 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2140072323 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140073366 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140073872 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140073988 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2140073990 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2140074097 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2140074192 GCH1 Health Risk Pathogenic Dystonia, dopa-responsive
RS2140074226 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2140077758 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140077796 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2140080563 PSEN1 Health Risk Pathogenic —
RS2140080841 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140082978 RDH11 Health Risk Pathogenic —
RS2140085425 LYSET Health Risk Pathogenic Dysostosis multiplex, Ain-Naz type
RS2140088419 MEIS2 Health Risk Pathogenic Cardiac malformation, cleft lip/palate
RS2140090204 IFT43 Health Risk Pathogenic —
RS2140091906 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140095097 GON7 Health Risk Pathogenic Galloway-Mowat syndrome 9, Galloway-Mowat syndrome 9
RS2140095603 UBR7 Health Risk Pathogenic Mild intellectual disability, Mild intellectual disability
RS2140096468 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096745 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096946 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096995 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140098022 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140098691 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2140099474 IFT43 Health Risk Likely pathogenic —
RS2140100738 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140102081 IFT43 Health Risk Likely pathogenic Short-rib thoracic dysplasia 18 with polydactyly, Short-rib thoracic dysplasia 18 with polydactyly
RS2140102093 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2140103116 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140103906 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140105309 PSEN1 Health Risk Pathogenic Acne inversa, familial
RS2140110277 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS2140111252 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS2140112570 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS2140113373 TSHR Health Risk Likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS2140114949 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
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