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
RS1555874555 KCNQ2 Health Risk Likely pathogenic —
RS1555874726 SPECC1L Health Risk Pathogenic/Likely pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1
RS1555874803 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555874874 CBS Health Risk Likely pathogenic Classic homocystinuria, Homocystinuria
RS1555875292 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555875308 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1555875325 CBS Health Risk Likely pathogenic Classic homocystinuria, CBS-related disorder
RS1555875358 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555875387 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1555875892 SMARCB1 Health Risk Pathogenic —
RS1555875915 SMARCB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555875917 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1
RS1555876140 SMARCB1 Health Risk Pathogenic Teratoid tumor, atypical
RS1555876283 PIGT Health Risk risk factor Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2
RS1555876755 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555876784 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555877107 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1555877252 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Collagen 6-related myopathy
RS1555877258 COL6A2 Health Risk Conflicting classifications of pathogenicity —
RS1555877276 SMARCB1 Health Risk Pathogenic —
RS1555877282 COL6A2 Health Risk Likely pathogenic —
RS1555877286 SMARCB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Atypical teratoid rhabdoid tumor
RS1555877287 SMARCB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 15
RS1555877364 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555878893 CACNA1C Health Risk Likely pathogenic —
RS1555879031 CACNA1C Health Risk Pathogenic —
RS1555879360 NRIP1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomalies of kidney and urinary tract 3
RS1555881112 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS1555881563 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 15
RS1555881567 SMARCB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 15
RS1555881586 SMARCB1 Health Risk Pathogenic —
RS1555881741 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Inborn genetic diseases
RS1555881809 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, KCNQ2-related disorder
RS1555882009 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease
RS1555882068 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555882291 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Coxopodopatellar syndrome
RS1555882867 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1555882921 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1555883338 TBX4 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease
RS1555883342 TBX4 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension
RS1555883345 EEF1A2 Health Risk Likely pathogenic —
RS1555883384 EEF1A2 Health Risk Pathogenic/Likely pathogenic EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Developmental and epileptic encephalopathy
RS1555883466 TBX4 Health Risk Pathogenic —
RS1555883469 TBX4 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease
RS1555883486 EEF1A2 Health Risk Likely pathogenic —
RS1555883501 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS1555883505 EEF1A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1555883816 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS1555883860 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS1555883869 EEF1A2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 33
RS1555883949 GNAS Health Risk Pathogenic See cases, See cases
RS1555883975 EEF1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555884508 PI4KA Health Risk Likely pathogenic —
RS1555884790 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1555884845 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1555885023 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1555885056 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555887068 CACNA1C Health Risk Likely pathogenic —
RS1555888363 CSTB Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Unverricht-Lundborg syndrome
RS1555888493 LOC130066788;CSTB Health Risk Likely pathogenic —
RS1555888762 CRYBB2 Health Risk Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS1555889031 GNAS Health Risk Conflicting classifications of pathogenicity —
RS1555889069 KCNB1 Health Risk Pathogenic —
RS1555889084 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1555889090 KCNB1 Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1555889103 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1555889108 KCNB1 Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1555889110 KCNB1 Health Risk Pathogenic/Likely pathogenic —
RS1555889114 KCNB1 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1555889127 KCNB1 Health Risk Likely pathogenic 6 conditions, Epileptic encephalopathy
RS1555889130 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1555889131 GNAS Health Risk Pathogenic Pseudopseudohypoparathyroidism, Inborn genetic diseases
RS1555889157 KCNB1 Health Risk Pathogenic —
RS1555889162 KCNB1 Health Risk Pathogenic KCNB1-related disorder, Developmental and epileptic encephalopathy
RS1555889308 CRYBB2 Health Risk Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS1555889738 GSS Health Risk Pathogenic Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS1555889984 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1555890974 ACO2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555891562 GNAS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555891584 GNAS Health Risk Likely pathogenic GNAS-related disorder, Pseudohypoparathyroidism type I A
RS1555891595 GNAS Health Risk Likely pathogenic Inborn genetic diseases, GNAS-related disorder
RS1555891728 GNAS Health Risk Likely pathogenic —
RS1555891743 GNAS Health Risk Pathogenic —
RS1555893221 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1555893359 GRIN2D Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 46
RS1555894289 CHKB Health Risk Likely pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1555894390 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1555894574 TRIOBP Health Risk Pathogenic —
RS1555895066 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1555895069 TCN2 Health Risk Likely pathogenic —
RS1555895466 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1555895704 MID1 Health Risk Pathogenic Dandy-Walker syndrome, X-linked Opitz G/BBB syndrome
RS1555895725 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1555896285 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1555896474 TBX1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555896735 SON Health Risk Pathogenic —
RS1555896778 GATA5 Health Risk Pathogenic Congenital heart defects, multiple types
RS1555896779 GATA5 Health Risk Pathogenic Congenital heart defects, multiple types
RS1555896814 TBX1 Health Risk Likely pathogenic —
RS1555896828 TBX1 Health Risk Likely pathogenic —
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