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
RS2484789514 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2484793892 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484794385 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484794449 RELN Health Risk Likely pathogenic —
RS2484798416 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484800309 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484800908 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484802404 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484803145 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484805251 OGDH Health Risk Pathogenic Oxoglutaricaciduria, Oxoglutaricaciduria
RS2484805385 GLI3 Health Risk Likely pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484805390 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484805672 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484806814 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484807687 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2484813628 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484819562 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2484824389 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2484833539 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484836120 PCLO Health Risk Pathogenic —
RS2484836145 PCLO Health Risk Pathogenic —
RS2484837559 PCLO Health Risk Pathogenic —
RS2484838210 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484838367 PCLO Health Risk Pathogenic —
RS2484838592 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484838751 PCLO Health Risk Pathogenic —
RS2484839846 PCLO Health Risk Conflicting classifications of pathogenicity —
RS2484840248 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484841000 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484845928 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484846029 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484846964 PUS7 Health Risk Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS2484848631 ELN Health Risk Likely pathogenic —
RS2484850454 OGDH Health Risk Pathogenic Oxoglutaricaciduria, Oxoglutaricaciduria
RS2484857180 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858214 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858344 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858423 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484858985 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484861866 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2484862044 AUTS2 Health Risk Pathogenic —
RS2484867928 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2484868223 TRRAP Health Risk Likely pathogenic See cases, See cases
RS2484868235 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2484874664 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2484882747 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484882987 PUS7 Health Risk Pathogenic Pervasive developmental disorder, Intellectual developmental disorder with abnormal behavior
RS2484884544 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484884559 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484884689 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS2484885417 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS2484885461 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484886000 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2484886490 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484886631 RARS2 Health Risk Pathogenic —
RS2484895567 PMPCB Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS2484897037 PCLO Health Risk Pathogenic —
RS2484897383 PCLO Health Risk Pathogenic/Likely pathogenic PCLO-related disorder, PCLO-related disorder
RS2484900067 PCLO Health Risk Pathogenic Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
RS2484902100 PCLO Health Risk Pathogenic —
RS2484904067 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484904759 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484905405 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484905454 AUTS2 Health Risk Pathogenic —
RS2484905470 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484905749 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484905836 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484905892 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484906256 PCLO Health Risk Pathogenic —
RS2484906480 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484907850 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS2484908782 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484917661 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484922041 PUS7 Health Risk Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS2484922818 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484923103 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Inborn genetic diseases
RS2484928848 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2484928867 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS2484928875 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2484928957 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2484929014 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Colon adenocarcinoma
RS2484931786 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2484932535 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484941961 PRKN Health Risk Pathogenic —
RS2484942852 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484943705 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484943954 SGCE Health Risk Pathogenic —
RS2484944161 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484944679 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484944771 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484945647 SGCE Health Risk Pathogenic —
RS2484946009 SGCE Health Risk Pathogenic —
RS2484968022 CFTR Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
RS2484968069 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2484968079 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2484968388 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2484968425 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2484968431 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2484972450 SGCE Health Risk Pathogenic —
RS2484972496 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
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