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
RS199802790 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS199802986 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS199803800 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199804244 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS199804573 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS199804593 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Gastric cancer
RS199804623 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS199804679 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS199804735 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Inborn genetic diseases
RS199804946 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS199805060 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS199805560 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS199805789 FLVCR2 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS199806093 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Febrile seizures
RS199806204 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS199806210 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199806423 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS199806576 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199806592 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS199806711 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS199806879 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS199807050 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS199807227 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS199807325 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS199807362 PPCS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199807461 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS199807709 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199807759 DIP2A Health Risk Conflicting classifications of pathogenicity —
RS199807868 EIF2AK4 Health Risk Conflicting classifications of pathogenicity —
RS199807908 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS199808176 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
RS199808222 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS199808421 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS199808624 CLIC5 Health Risk Conflicting classifications of pathogenicity CLIC5-related disorder, CLIC5-related disorder
RS199808954 FBN2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Congenital contractural arachnodactyly
RS199809221 MMAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199809873 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS199809905 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS199809931 COL13A1 Health Risk Conflicting classifications of pathogenicity COL13A1-related disorder, Inborn genetic diseases
RS199810047 TRPC6 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Focal segmental glomerulosclerosis 2
RS199810179 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS199810429 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS199810483 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS199810663 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Clear cell carcinoma of kidney
RS199810678 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS199810775 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199811011 MVK Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Porokeratosis 3
RS199811263 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS199812109 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS199812266 GRIP1 Health Risk Conflicting classifications of pathogenicity GRIP1-related disorder, Inborn genetic diseases
RS199812342 USH1C Health Risk Conflicting classifications of pathogenicity —
RS199812598 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS199812903 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS199813044 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS199813223 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS199813442 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199813531 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS199813733 COL17A1 Health Risk Pathogenic —
RS199814282 DIAPH3 Health Risk Conflicting classifications of pathogenicity DIAPH3-related disorder, DIAPH3-related disorder
RS199814381 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS199814707 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS199814952 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS199815268 SGO1 Health Risk Pathogenic Chronic atrial and intestinal dysrhythmia, Cardiovascular phenotype
RS199815523 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS199815871 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS199816806 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199817036 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS199817418 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS199817659 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199817801 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS199818224 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS199818232 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS199818479 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS199818612 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS199818690 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS199818754 PPIL1 Health Risk Pathogenic/Likely pathogenic Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia
RS199818783 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS199818954 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS199819125 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS199819170 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, Hepatocellular carcinoma
RS199820033 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS199820366 ITSN2 Health Risk Conflicting classifications of pathogenicity —
RS199820445 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS199820754 APP Health Risk Likely pathogenic Alzheimer disease type 1, Cerebral amyloid angiopathy
RS199820816 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199821084 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS199821105 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS199821241 TTN Health Risk Conflicting classifications of pathogenicity —
RS199821258 TMEM67 Health Risk Likely pathogenic Joubert syndrome 6, Meckel syndrome
RS199821354 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS199821421 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS199821556 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS199822230 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS199822239 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Craniosynostosis 7
RS199822303 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199822504 DDB2 Health Risk Pathogenic —
RS199822819 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS199822951 RNF113A Health Risk Conflicting classifications of pathogenicity —
RS199823547 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Inborn genetic diseases
RS199824003 FLVCR2 Health Risk Conflicting classifications of pathogenicity Fowler syndrome, Inborn genetic diseases
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