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
RS1573716795 ZEB2 Health Risk Pathogenic —
RS1573717173 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS1573717593 ZEB2 Health Risk Pathogenic —
RS1573717685 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573718595 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573718600 ZEB2 Health Risk Pathogenic —
RS1573718630 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573721065 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573721242 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573722122 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573722407 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573728266 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1573730110 GLI2 Health Risk Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1573743003 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573743888 ZEB2 Health Risk Pathogenic —
RS1573743951 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573744795 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy
RS1573751635 SMPD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1573779765 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1573811478 NR4A2 Health Risk Likely pathogenic —
RS1573847394 SAP130 Health Risk Likely pathogenic —
RS1573856970 TET3 Health Risk Conflicting classifications of pathogenicity Beck-Fahrner syndrome, TET3 deficiency
RS1573859191 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1573859565 PTCD3 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
RS1573876584 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573878004 FH Health Risk Pathogenic —
RS1573878071 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573878145 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1573878149 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ovarian serous cystadenocarcinoma
RS1573878695 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1573879289 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573879313 FH Health Risk Pathogenic Fumarase deficiency, Fumarase deficiency
RS1573880177 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1573880531 FH Health Risk Likely pathogenic Hereditary cancer, Hereditary cancer
RS1573880626 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1573881533 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1573881563 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573881629 FH Health Risk Likely pathogenic —
RS1573881633 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1573881742 SPR Health Risk Likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS1573882268 SPR Health Risk Pathogenic Intellectual disability, Dystonic disorder
RS1573882444 SPR Health Risk Likely pathogenic —
RS1573883195 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573883310 FH Health Risk Pathogenic —
RS1573883332 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1573883342 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573883345 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1573885482 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1573885503 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573885519 FH Health Risk Pathogenic —
RS1573886367 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573886415 FH Health Risk Pathogenic —
RS1573886490 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573887621 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1573888356 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573888362 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1573888513 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573888556 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573889860 FH Health Risk Pathogenic —
RS1573890047 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1573890070 FH Health Risk Pathogenic —
RS1573906351 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1573906389 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1573911397 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1573911593 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1573920009 SDCCAG8 Health Risk Pathogenic Renal dysplasia and retinal aplasia, Renal dysplasia and retinal aplasia
RS1573928936 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS1573929182 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1573935244 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1573943032 DYSF Health Risk Conflicting classifications of pathogenicity Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1573943246 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573945872 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1573946994 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1573947939 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1573948129 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1573949142 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573949198 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1573950349 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1573952473 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1573952908 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1573953030 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1573953706 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1573962555 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Inborn genetic diseases
RS1573962628 SCN1A Health Risk Likely pathogenic —
RS1573963975 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1573964264 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1573964628 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1573965358 METTL5 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability, Intellectual developmental disorder
RS1573969322 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1573972562 METTL5 Health Risk Pathogenic Severe intellectual disability, Intellectual developmental disorder
RS1573973548 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1573977142 SLC25A12 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 39
RS1573977924 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1573984004 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1573984110 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1573984593 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Developmental and epileptic encephalopathy 6B
RS1573984787 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1573991676 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS1573992736 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1573997412 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
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