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
RS752360961 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS752361848 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease type 1
RS752362727 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome
RS752363398 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS752363479 DMXL2 Health Risk Pathogenic —
RS752363538 LRRC56 Health Risk Conflicting classifications of pathogenicity —
RS752363855 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752364658 OBSCN Health Risk Pathogenic —
RS752365478 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Choroidal dystrophy
RS752365500 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS752366374 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752370234 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS752370319 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS752371826 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS752372837 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752373431 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS752373512 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS752374133 KRT14 Health Risk Likely pathogenic Dermatopathia pigmentosa reticularis, Dermatopathia pigmentosa reticularis
RS752374375 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS752375264 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS752375436 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS752375500 IFNAR1 Health Risk Pathogenic —
RS752375653 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS752376206 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS752377040 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS752377212 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS752378132 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752378955 LPL Health Risk Likely pathogenic —
RS752379641 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS752379824 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS752381391 SKIC3 Health Risk Pathogenic —
RS752382813 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS752383339 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS752384050 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS752385455 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS752385694 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS752385722 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS752387055 GRIA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752387234 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752387760 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS752387780 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS752388008 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS752389284 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS752389406 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy
RS752390475 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS75239284 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS752392891 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS752393043 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS752395541 SOS1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, RASopathy
RS752395624 CFAP410 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS752396270 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS752396911 SLC6A1 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Epilepsy with myoclonic atonic seizures
RS752397242 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Inborn genetic diseases
RS752397587 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS752398289 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS752399030 CFAP410 Health Risk Conflicting classifications of pathogenicity CFAP410-related disorder, CFAP410-related disorder
RS752399257 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, HPS6-related disorder
RS752399634 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS752400040 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS752400894 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS752401008 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS752401295 OBSL1 Health Risk Pathogenic/Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS752401914 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752402013 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS752402979 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS752403373 GRM1 Health Risk Conflicting classifications of pathogenicity —
RS752404282 TBP Health Risk Pathogenic Spinocerebellar ataxia type 17, Spinocerebellar ataxia type 17
RS752404604 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752405799 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS752409181 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS752409331 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS752410797 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, HADHB-related disorder
RS752410892 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752411292 ACE Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS752411477 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS752411726 VLDLR Health Risk Pathogenic —
RS752411823 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS752411996 KNG1 Health Risk Pathogenic High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
RS752412772 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS752414831 VDR Health Risk Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS752415137 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS752415542 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS752416376 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752416907 ACAD9 Health Risk Pathogenic —
RS752417487 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS752417571 TUBGCP6 Health Risk Pathogenic —
RS752417927 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS752417963 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS752418541 COL17A1 Health Risk Pathogenic —
RS752419274 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752419634 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS752422245 RTTN Health Risk Conflicting classifications of pathogenicity —
RS752422797 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS752423472 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS752425360 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS752425529 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS752426180 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS752426667 SLC1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752427775 PRDM12 Health Risk Likely pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases
RS752428122 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
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