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
RS1555370811 YY1 Health Risk Pathogenic —
RS1555370868 YY1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555370915 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555370967 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1555371565 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555371596 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555371642 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555371769 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, SPTB-related disorder
RS1555372566 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555372838 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555372847 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Ovarian cancer
RS1555372851 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555373228 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555373261 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1555373363 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1555373368 INF2 Health Risk Likely pathogenic —
RS1555373511 NALCN Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555373599 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1555374117 MAGEL2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555374125 MAGEL2 Health Risk Pathogenic —
RS1555374227 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1555374254 MAGEL2 Health Risk Pathogenic —
RS1555374290 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1555374335 MAGEL2 Health Risk Likely pathogenic —
RS1555374679 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555374734 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555374767 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555374772 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555374817 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555374839 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555375333 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555375356 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555375711 OCA2 Health Risk Pathogenic Brown oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1555375852 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555375944 NALCN Health Risk Likely pathogenic —
RS1555375946 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555375978 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555376017 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1555376035 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1555376174 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555376234 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1555376295 BCL11B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555376368 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555376375 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555376548 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555376587 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555376629 ALDH6A1;BBOF1 Health Risk Likely pathogenic —
RS1555376682 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555376688 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder
RS1555376818 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555377234 IRF2BPL Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555377252 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555377336 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1555377415 IRF2BPL Health Risk Conflicting classifications of pathogenicity IRF2BPL-related disorder, IRF2BPL-related disorder
RS1555377483 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1555377528 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1555377947 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555377971 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555378534 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555378538 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555378562 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555378616 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS1555378701 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555378707 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555378721 KIAA0586 Health Risk Pathogenic —
RS1555379355 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555379525 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS1555379635 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1555379669 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555379684 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1555379745 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1555379800 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1555379886 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1555379911 CHAMP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555379968 CHAMP1 Health Risk Pathogenic/Likely pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS1555380625 AMN Health Risk Likely pathogenic —
RS1555380716 SLC12A6 Health Risk Pathogenic/Likely pathogenic Hypertelorism, Corpus callosum
RS1555380809 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1555380820 UBE3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Angelman syndrome
RS1555380998 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555381108 NALCN Health Risk Conflicting classifications of pathogenicity Congenital contractures of the limbs and face, hypotonia
RS1555381324 AMN Health Risk Pathogenic Cobalamin deficiency, Megaloblastic anemia
RS1555381416 SLC12A6 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease
RS1555381417 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555381439 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555381485 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS1555381538 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1555381559 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555381616 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555381958 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383003 NALCN Health Risk Likely pathogenic —
RS1555383306 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383308 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383310 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383498 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383517 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383679 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383687 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Incidental Discovery
RS1555383892 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555384169 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
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