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
RS1798086782 IMPDH1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 11, Retinitis pigmentosa 10
RS1798090339 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 10
RS1798090540 IMPDH1 Health Risk Pathogenic Leber congenital amaurosis 11, Retinal dystrophy
RS1798091523 IMPDH1 Health Risk Pathogenic —
RS1798091848 PLOD3 Health Risk Pathogenic Bone fragility with contractures, arterial rupture
RS1798139951 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1798140230 KMT2E Health Risk Likely pathogenic —
RS1798145890 KMT2E Health Risk Pathogenic —
RS1798216037 IMPDH1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1798228728 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798241938 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798243790 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798246011 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798255831 RUNX2 Health Risk Pathogenic —
RS1798258547 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798259380 RUNX2 Health Risk Pathogenic —
RS1798261271 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798262516 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798379068 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1798467599 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1798487766 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1798490375 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia
RS1798504836 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1798520770 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1798551566 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798601140 EYA4 Health Risk Pathogenic EYA4-related disorder, Dilated cardiomyopathy 1J
RS1798679896 KMT2E Health Risk Pathogenic Neurodevelopmental disorder, O'Donnell-Luria-Rodan syndrome
RS1798733144 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798735440 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1798736907 RUNX2 Health Risk Likely pathogenic —
RS1798791092 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1798849948 CFTR Health Risk Pathogenic/Likely pathogenic CFTR-related disorder, Cystic fibrosis
RS1798854245 CFTR Health Risk Pathogenic —
RS1798854379 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1798858347 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1798890807 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1798939855 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1798957076 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1798959540 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1798962805 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1798964448 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1798970889 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1798970895 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1798979994 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1799022949 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1799061745 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1799182705 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1799183455 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1799200073 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1799201805 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1799216615 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1799307071 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1799325384 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1799374421 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1799378709 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1799386566 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1799402262 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1799414845 KMT2E Health Risk Conflicting classifications of pathogenicity KMT2E-related disorder, Inborn genetic diseases
RS1799418948 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1799421850 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1799425190 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Hereditary pancreatitis
RS1799458667 DOCK4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1799463371 TNPO3 Health Risk Likely pathogenic —
RS1799515896 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1799516672 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1799544883 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1799563986 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1799588164 SGCE Health Risk Pathogenic —
RS1799652893 SSBP1 Health Risk Pathogenic Optic atrophy 13 with retinal and foveal abnormalities, Cone-rod dystrophy
RS1799653139 SSBP1 Health Risk Likely pathogenic Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities
RS1799660837 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1799692515 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS1799724 TNF Health Risk risk factor —
RS1799735312 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS1799747454 SSBP1 Health Risk Pathogenic Optic atrophy 13 with retinal and foveal abnormalities, Retinal disorder
RS1799762 SERPINE1 Health Risk Pathogenic; other Transcription level of plasminogen activator inhibitor 1, Transcription level of plasminogen activator inhibitor 1
RS1799780 XRCC1 Health Risk association Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
RS1799792 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS1799802 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS1799807 BCHE Health Risk Pathogenic/Likely pathogenic Postanesthetic apnea, Deficiency of butyrylcholinesterase
RS1799812 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1799815535 SLC25A46 Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS1799816 INSR Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS1799819389 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1799849914 ASAH1 Health Risk Likely pathogenic —
RS1799857 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1799858 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS1799871 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS1799910521 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1799915649 SSBP1 Health Risk Pathogenic Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities
RS1799919744 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1799939 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hirschsprung disease
RS1799945 HFE Health Risk Conflicting classifications of pathogenicity; other Hemochromatosis type 1, Hereditary hemochromatosis
RS1799951 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1799954 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1799956 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1799963 F2 Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele; risk factor Ischemic stroke, Pregnancy loss
RS1799969211 ASAH1 Health Risk Pathogenic —
RS1799970 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1799985749 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PRPH2-related disorder
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