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
RS1179042084 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1179051248 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS117905900 CFB Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome
RS1179062239 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1179064700 EPM2A Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS117907409 C1S Health Risk Conflicting classifications of pathogenicity Complement component C1s deficiency, Ehlers-Danlos syndrome
RS117908219 NDUFAF4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS117910358 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS1179112808 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS1179121574 ASXL1 Health Risk Pathogenic/Likely pathogenic —
RS1179131194 NTHL1 Health Risk Pathogenic —
RS1179151808 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1179163564 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1179164891 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1179199637 COL7A1 Health Risk Pathogenic —
RS117920214 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS11792065 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS117921863 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS1179247052 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS117925274 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1179257010 TRIO Health Risk Pathogenic —
RS117925872 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1179261094 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS117926957 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS117928032 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1179291814 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1179298414 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1179305061 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS11793196 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS1179322894 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1179324500 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS1179340088 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS117934093 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1179351306 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1179361051 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS1179374287 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS117939448 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS1179403052 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1179406638 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS117940741 FHIP1B Health Risk Conflicting classifications of pathogenicity Prostate cancer, Prostate cancer
RS1179429999 TMEM38B Health Risk Pathogenic Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
RS1179439325 DUOX2 Health Risk Likely pathogenic —
RS1179448549 CD27 Health Risk Likely pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS1179449592 ODAD1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 20
RS1179452976 FBN2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Congenital contractural arachnodactyly
RS1179459853 ANK1 Health Risk Pathogenic —
RS1179461242 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS1179465577 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1179484173 ADGRV1 Health Risk Pathogenic —
RS1179486581 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1179490149 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS1179490369 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1179499890 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1179512510 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS1179528365 MEFV Health Risk Likely pathogenic Familial Mediterranean fever, autosomal dominant
RS1179536054 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS1179540326 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Acromicric dysplasia
RS1179554814 PDX1 Health Risk Uncertain significance/Uncertain risk allele Pancreatic hypoplasia, Maturity-onset diabetes of the young
RS1179555424 MLYCD Health Risk Pathogenic/Likely pathogenic Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder
RS1179556029 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1179559567 MFAP5 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1179570288 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1179580843 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS1179595016 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS117959552 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS117959899 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1179604644 TRAPPC10 Health Risk Likely pathogenic TRAPPopathy microcephalic, TRAPPopathy microcephalic
RS1179605136 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1179609154 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS117961973 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1179619995 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS117962829 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS117963393 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1179635654 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS117965307 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS117966637 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1179685623 CC2D1A Health Risk Conflicting classifications of pathogenicity —
RS1179712488 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1179717146 TBCE Health Risk Pathogenic —
RS117972572 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 6
RS1179735603 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1179736830 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS1179744489 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1179757867 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS117976105 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1179768667 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1179773177 C3 Health Risk Pathogenic —
RS1179778233 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1179812872 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1179814153 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1179816505 INVS Health Risk Pathogenic Nephronophthisis, Inborn genetic diseases
RS117981655 NDUFS3 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1179823296 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1179853540 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS117985483 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS117985576 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1179860852 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1179870762 ATM Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1179872960 HPS5 Health Risk Pathogenic —
RS117987369 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
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