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
RS1782629977 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1782745000 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1782761474 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1782841146 INTS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1782913891 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782934080 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782935566 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1782941753 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS1782943354 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1782947222 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1782949423 RAC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1782949480 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1782958183 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782962260 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1782962828 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782975271 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1782978316 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1782980450 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1782990176 PKHD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1782991463 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1782992250 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782994894 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1783004175 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783005266 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1783006864 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1783008091 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1783018501 HNRNPA2B1 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1783022008 HACE1 Health Risk Likely pathogenic HACE1-related disorder, HACE1-related disorder
RS1783031685 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1783036349 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1783039464 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783042060 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783054698 HPD Health Risk Likely pathogenic —
RS1783074775 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1783077289 IMPG1 Health Risk Pathogenic —
RS1783079545 IMPG1 Health Risk Pathogenic Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 4
RS1783084396 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783090781 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1783092153 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1783098862 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1783105049 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS1783105291 RAC1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 48
RS1783113930 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1783119923 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1783123619 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1783135008 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1783139001 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783147885 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783181207 CPLANE1 Health Risk Pathogenic —
RS1783184138 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1783240643 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1783251037 GARS1 Health Risk Pathogenic Spinal muscular atrophy, infantile
RS1783333404 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1783348812 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1783373825 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1783403912 CYCS Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 4, Thrombocytopenia 4
RS1783410926 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1783419625 SCUBE3 Health Risk Pathogenic Abnormality of the dentition, Abnormal facial shape
RS1783424526 ECHDC1 Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1783443333 IMPG1 Health Risk Pathogenic —
RS1783482812 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1783506726 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783516106 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783517622 CDK19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 87
RS1783517960 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Lynch syndrome
RS1783518295 CDK19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 87
RS1783518890 CDK19 Health Risk Likely pathogenic —
RS1783519120 CDK19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 87
RS1783529876 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783532593 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1783539066 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1783569129 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1783569729 IGF2R Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1783602877 DLL1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS1783620400 SCUBE3 Health Risk Pathogenic Abnormality of the dentition, Abnormal facial shape
RS1783698601 IMPG1 Health Risk Pathogenic —
RS1783708272 IMPG1 Health Risk Pathogenic —
RS1783731105 NHLRC1 Health Risk Conflicting classifications of pathogenicity NHLRC1-related disorder, Lafora disease
RS1783745550 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1783750860 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1783751658 DLL1 Health Risk Likely pathogenic —
RS1783752911 DLL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1783805590 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS17838192 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1783826754 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1783854370 IMPG1 Health Risk Pathogenic —
RS17838545 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS1784023146 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1784103136 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1784103216 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1784105261 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS178412 LIMK1 Health Risk Conflicting classifications of pathogenicity LIMK1-related disorder, LIMK1-related disorder
RS1784124318 SCUBE3 Health Risk Pathogenic —
RS1784156837 KLHL7 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1784160131 KLHL7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Retinitis pigmentosa
RS1784195520 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1784205288 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1784207138 DSE Health Risk Likely pathogenic See cases, See cases
RS1784221557 SCUBE3 Health Risk Pathogenic Short stature, facial dysmorphism
RS1784247205 CRPPA Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
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