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
RS2525119285 PRPF3 Health Risk Pathogenic —
RS2525120658 ATF6 Health Risk Pathogenic —
RS2525122328 SF3B4 Health Risk Likely pathogenic —
RS2525123241 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS2525125637 SF3B4 Health Risk Pathogenic —
RS2525132048 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2525133650 SPTA1 Health Risk Likely pathogenic —
RS2525133855 SPTA1 Health Risk Pathogenic —
RS2525134307 SPTA1 Health Risk Pathogenic —
RS2525134632 SLC16A1 Health Risk Likely pathogenic —
RS2525135967 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS2525136947 NFIA Health Risk Likely pathogenic —
RS2525137108 NFIA Health Risk Pathogenic —
RS2525145486 FLG Health Risk Likely pathogenic Dermatitis, atopic
RS2525147314 SPTA1 Health Risk Likely pathogenic —
RS2525151352 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2525156811 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2525161846 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525161997 CTSK Health Risk Pathogenic —
RS2525165528 CTSK Health Risk Likely pathogenic —
RS2525166455 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525166522 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525166556 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525166561 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525166892 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525173632 CTSK Health Risk Pathogenic —
RS2525173651 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525173663 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525173667 CTSK Health Risk Pathogenic —
RS2525173940 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525173966 CTSK Health Risk Pathogenic —
RS2525174048 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525174588 FLG Health Risk Pathogenic —
RS2525175035 FLG Health Risk Pathogenic —
RS2525178332 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178470 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178648 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178672 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178790 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178794 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2525178878 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525180406 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525180438 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525180527 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525180734 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2525180749 CTSK Health Risk Pathogenic —
RS2525182868 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS2525194037 ADCY10 Health Risk Pathogenic —
RS2525200185 SPTA1 Health Risk Likely pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2525200218 SPTA1 Health Risk Likely pathogenic —
RS2525200720 SPTA1 Health Risk Pathogenic SPTA1-related disorder, SPTA1-related disorder
RS2525204882 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS2525205301 COL11A1 Health Risk Pathogenic —
RS2525215751 PRPF3 Health Risk Likely pathogenic —
RS2525216260 FLG Health Risk Pathogenic —
RS2525216689 PRPF3 Health Risk Pathogenic —
RS2525218019 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2525218255 SCNM1 Health Risk Pathogenic Orofaciodigital syndrome 19, Orofaciodigital syndrome 19
RS2525218553 SCNM1 Health Risk Pathogenic Orofaciodigital syndrome 19, Orofaciodigital syndrome 19
RS2525218826 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2525218835 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2525232549 GATAD2B Health Risk Conflicting classifications of pathogenicity —
RS2525233935 DNAJC6 Health Risk Likely pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS2525234382 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525237776 GATAD2B Health Risk Pathogenic —
RS2525237895 GATAD2B Health Risk Pathogenic —
RS2525241090 SPTA1 Health Risk Pathogenic —
RS2525244739 ATF6 Health Risk Pathogenic —
RS2525244930 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2525245079 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2525247936 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2525248081 GATAD2B Health Risk Pathogenic See cases, See cases
RS2525249140 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS2525251745 PPOX Health Risk Likely pathogenic See cases, See cases
RS2525252561 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525252642 SPTA1 Health Risk Pathogenic —
RS2525254041 SPTA1 Health Risk Likely pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2525256628 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525256748 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525261271 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2525261371 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525266189 WARS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2525269468 SPTA1 Health Risk Likely pathogenic —
RS2525269876 PKLR Health Risk Pathogenic —
RS2525270500 PKLR Health Risk Likely pathogenic —
RS2525277601 PKLR Health Risk Likely pathogenic —
RS2525277846 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS2525279507 PKLR Health Risk Pathogenic —
RS2525282610 PKLR Health Risk Conflicting classifications of pathogenicity —
RS2525285938 COL11A1 Health Risk Pathogenic —
RS2525286094 COL11A1 Health Risk Pathogenic —
RS2525287169 PKLR Health Risk Likely pathogenic —
RS2525289192 PKLR Health Risk Pathogenic —
RS2525291265 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525291364 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2525291465 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525291702 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525291782 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS2525292291 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS2525292929 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
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