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
RS1555985649 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985687 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1555985689 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1555985742 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985745 PCDH19 Health Risk Likely pathogenic —
RS1555985780 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1555985799 PCDH19 Health Risk Pathogenic —
RS1555985814 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1555985820 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985827 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985829 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985830 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS1555985855 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1555985864 PCDH19 Health Risk Likely pathogenic —
RS1555986221 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555986267 MBTPS2 Health Risk Pathogenic Osteogenesis imperfecta, type 19
RS1555986287 MBTPS2 Health Risk Pathogenic Osteogenesis imperfecta, type 19
RS1555986305 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555986307 GLA Health Risk Pathogenic —
RS1555986860 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555986950 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1555987080 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS1555987101 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555987107 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555987150 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555987162 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555987175 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1555987214 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555987215 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555987232 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555987647 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS1555987732 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS1555988071 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1555988204 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation
RS1555988314 HNRNPH2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1555988317 OPHN1 Health Risk Pathogenic —
RS1555988382 PLA2G6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy
RS1555988404 HNRNPH2 Health Risk Pathogenic —
RS1555988417 HNRNPH2 Health Risk Pathogenic Intellectual disability, X-linked
RS1555988422 HNRNPH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1555988479 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer
RS1555988730 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1555989321 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1555989329 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1555989338 CASK Health Risk Pathogenic —
RS1555989364 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1555989375 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1555989523 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1555989715 SLC16A2 Health Risk Pathogenic —
RS1555989729 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1555989846 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1555990320 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555990470 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1555990478 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555990485 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1555990488 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555990751 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555990805 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1555990816 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555990855 DYRK1A Health Risk Pathogenic —
RS1555990946 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1555990955 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555990958 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder
RS1555991325 DYRK1A Health Risk Likely pathogenic —
RS1555991936 HDAC8 Health Risk Pathogenic —
RS1555991965 HDAC8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555992948 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555993038 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1555993215 HDAC8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555993243 HDAC8 Health Risk Pathogenic —
RS1555993293 NF2 Health Risk Likely pathogenic Ependymoma, Ependymoma
RS1555993301 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS1555993313 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555993323 TBX22 Health Risk Likely pathogenic —
RS1555993336 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555993345 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555993352 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS1555994573 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555994816 NF2 Health Risk Likely pathogenic —
RS1555994819 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555994836 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555994854 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555995130 DYRK1A Health Risk Likely pathogenic —
RS1555995635 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1555995689 PHKA2 Health Risk Likely pathogenic —
RS1555995750 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555995816 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555995822 AR Health Risk Likely pathogenic Kennedy disease, Androgen resistance syndrome
RS1555995840 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555995842 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555995848 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555995851 AR Health Risk Likely pathogenic Androgen resistance syndrome, Differences in sex development
RS1555995865 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555995877 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555996156 NF2 Health Risk Pathogenic —
RS1555996218 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1555996810 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555996855 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555996863 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555996867 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
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