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
RS1562845204 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1562846113 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1562846257 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1562846694 ACTL6B Health Risk Likely pathogenic ACTL6B-related neurodevelopmental disorder, ACTL6B-related neurodevelopmental disorder
RS1562847147 TNXB Health Risk Likely pathogenic —
RS1562847909 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS1562847911 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B
RS1562848142 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS1562848425 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS1562848466 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562848479 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562848556 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS1562848568 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS1562848909 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS1562849964 RINT1 Health Risk Pathogenic Fulminant hepatic failure, Infantile liver failure syndrome 3
RS1562851618 TNXB Health Risk Pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1562852978 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1562853011 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562853874 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1562857198 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS1562857871 PEX1 Health Risk Pathogenic —
RS1562864687 CASD1;SGCE Health Risk Likely pathogenic —
RS1562867409 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS1562869207 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1562875556 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1562876396 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562876459 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1562881854 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562881859 CCM2 Health Risk Likely pathogenic —
RS1562881980 CCM2 Health Risk Pathogenic/Likely pathogenic —
RS1562882045 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562882049 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562882675 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562882755 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562883374 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1562883575 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1562884016 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1562884046 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562889180 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562889382 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562889397 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562889435 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562890223 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562891084 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562892108 CFTR Health Risk Likely pathogenic —
RS1562892293 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562892359 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562892387 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562892823 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562892895 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562894320 PLOD3 Health Risk Likely pathogenic Bone fragility with contractures, arterial rupture
RS1562894926 CFTR Health Risk Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1562894928 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562895009 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562895052 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562895066 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562895104 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562895128 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562897434 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrullinemia, type II
RS1562898465 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562898471 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562898489 CFTR;CFTR-AS1 Health Risk Likely pathogenic Hereditary pancreatitis, Cystic fibrosis
RS1562898496 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562898510 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562899031 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1562900513 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1562905085 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1562905224 COL1A2 Health Risk Likely pathogenic —
RS1562905246 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1562906013 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type III
RS1562906265 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562906570 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1562906798 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562906981 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562907186 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562907190 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1562907232 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562907260 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562907287 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1562907331 CCM2 Health Risk Likely pathogenic —
RS1562907365 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562907455 CCM2 Health Risk Pathogenic —
RS1562907873 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562907896 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562907979 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562908173 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1562908889 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562908997 CFTR Health Risk Pathogenic/Likely pathogenic CFTR-related disorder, Bronchiectasis with or without elevated sweat chloride 1
RS1562911661 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562911739 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562912305 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Intellectual disability
RS1562912426 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562912441 CCM2 Health Risk Likely pathogenic CCM2-related disorder, CCM2-related disorder
RS1562912528 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562913873 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562914028 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562914072 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562914082 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562914107 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562914200 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
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