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
RS372024006 MBOAT7 Health Risk Likely pathogenic —
RS372024048 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SON-related disorder
RS372024516 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS372025031 KARS1 Health Risk Likely pathogenic —
RS372027264 HSD17B3 Health Risk Pathogenic/Likely pathogenic Pseudohermaphroditism, Testosterone 17-beta-dehydrogenase deficiency
RS372027811 IFT81 Health Risk Pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
RS372029024 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS372029461 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS372029672 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS372030578 ANKRD1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, ANKRD1-related dilated cardiomyopathy
RS372030650 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS372030704 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS372031019 ACTN1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, Platelet-type bleeding disorder 15
RS372031509 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS372031674 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, Inborn genetic diseases
RS372032713 GP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372033718 SLC4A1 Health Risk Likely pathogenic —
RS372034111 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS372035044 NALCN Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS372035480 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS372035579 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS372036357 F13A1 Health Risk Pathogenic —
RS372037019 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, HEPACAM-related disorder
RS372037531 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS372037674 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372038150 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS372039867 SNAI2 Health Risk Conflicting classifications of pathogenicity —
RS372041586 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS372041843 SLC25A19 Health Risk Pathogenic Amish lethal microcephaly, Amish lethal microcephaly
RS372042301 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS372042471 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS372044347 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS372044910 RMRP Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
RS372045549 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS372045593 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS372046349 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS372046417 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS372046855 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Abnormality of the musculature
RS372047384 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, PHYH-related disorder
RS372047427 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS372047677 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS372048184 XPC Health Risk Pathogenic —
RS372048303 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS372048855 CEP104 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 25, Intellectual developmental disorder
RS372048968 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS372049168 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS372049328 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372049345 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372049950 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS372050452 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS372051069 DGAT1 Health Risk Likely pathogenic —
RS372051486 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372053838 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS372054380 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS372054960 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS372055203 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS372056091 RAD9B Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS372058206 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, SLC24A1-related disorder
RS372058376 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, LHX3-related disorder
RS372058698 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS372060305 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS372061454 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS372061654 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia
RS372062509 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS372062686 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS372063405 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS372064165 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS372064842 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372065024 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS372065243 PADI6 Health Risk Conflicting classifications of pathogenicity Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS372065796 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372066126 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS372066473 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, HOGA1-related disorder
RS372068015 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS372068592 CSF1R Health Risk Conflicting classifications of pathogenicity CSF1R-related disorder, CSF1R-related disorder
RS372069327 PIGQ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS372069596 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS372069941 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Inborn genetic diseases
RS372070386 HEPACAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HEPACAM-related disorder
RS372072356 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder
RS372072854 ENG Health Risk Pathogenic —
RS372072916 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS372073271 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS372074938 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS372075053 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS372075439 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372076208 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372076630 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372078034 HDAC4 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS372078098 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS372078622 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS372079063 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS372079206 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS372079212 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, See cases
RS372079888 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS372079931 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS372080325 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372080941 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS372081834 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS372081870 SETD5 Health Risk Conflicting classifications of pathogenicity —
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