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
RS2486158089 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486158097 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486158174 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486160760 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS2486163472 ACTL6B Health Risk Likely pathogenic Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects
RS2486167093 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486170351 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486170638 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486170751 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS2486171406 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486171698 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486171827 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486172329 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486172358 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2486175038 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Malignant tumor of esophagus
RS2486175152 ERI1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Guo-Campeau type
RS2486178697 FIG4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2486183218 CCM2 Health Risk Likely pathogenic —
RS2486185880 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486189969 CUX1 Health Risk Pathogenic —
RS2486191761 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486192113 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486197750 GNB2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies, Inborn genetic diseases
RS2486203523 TRPV6 Health Risk Pathogenic —
RS2486205632 FIG4 Health Risk Likely pathogenic —
RS2486212016 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS2486218891 ERI1 Health Risk Likely pathogenic Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
RS2486219481 ERI1 Health Risk Likely pathogenic See cases, Spondyloepimetaphyseal dysplasia
RS2486219940 ERI1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Guo-Campeau type
RS2486221823 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486222306 TUSC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2486226043 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2486228014 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486234005 FIG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS2486243611 ERI1 Health Risk Likely pathogenic Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
RS2486260795 GIGYF1 Health Risk Likely pathogenic GIGYF1-related disorder, GIGYF1-related disorder
RS2486270150 GIGYF1 Health Risk Likely pathogenic GIGYF1-related disorder, GIGYF1-related disorder
RS2486276420 ELN Health Risk Pathogenic —
RS2486276957 GIGYF1 Health Risk Likely pathogenic GIGYF1-related disorder, GIGYF1-related disorder
RS2486283813 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486286311 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486288900 RP1L1 Health Risk Likely pathogenic —
RS2486300886 RP1L1 Health Risk Likely pathogenic RP1L1-related disorder, RP1L1-related disorder
RS2486309230 ERI1 Health Risk Likely pathogenic See cases, Spondyloepimetaphyseal dysplasia
RS2486317956 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2486318296 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486321745 ELN Health Risk Pathogenic ELN-related disorder, ELN-related disorder
RS2486322571 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486324663 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486325853 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486372287 CUX1 Health Risk Conflicting classifications of pathogenicity Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486376936 TUSC3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 7
RS2486383085 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486426172 CDK5 Health Risk Likely pathogenic Lissencephaly 7 with cerebellar hypoplasia, Colon adenocarcinoma
RS2486436785 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486437938 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486438692 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486440691 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486441460 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486442031 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2486442672 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486443112 ATP6V1B2 Health Risk Likely pathogenic Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS2486443393 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486461841 ATP6V1B2 Health Risk Likely pathogenic Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS2486482243 NKX2-6 Health Risk Likely pathogenic Conotruncal heart malformations, Conotruncal heart malformations
RS2486488212 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2486488263 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486488320 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486488805 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2486489059 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486525314 ELN Health Risk Likely pathogenic ELN-related disorder, ELN-related disorder
RS2486557537 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2486557558 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2486562061 ELN Health Risk Pathogenic Cutis laxa, autosomal dominant 1
RS2486583478 GSR Health Risk Likely pathogenic Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS2486624226 ESCO2 Health Risk Pathogenic —
RS2486626101 ESCO2 Health Risk Likely pathogenic —
RS2486626369 ESCO2 Health Risk Pathogenic —
RS2486626601 ESCO2 Health Risk Likely pathogenic —
RS2486626691 ESCO2 Health Risk Pathogenic —
RS2486626922 ESCO2 Health Risk Pathogenic —
RS2486627198 ESCO2 Health Risk Pathogenic —
RS2486627494 ESCO2 Health Risk Pathogenic —
RS2486627663 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS2486628020 ESCO2 Health Risk Pathogenic —
RS2486628069 ESCO2 Health Risk Pathogenic —
RS2486628509 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS2486628591 ESCO2 Health Risk Pathogenic —
RS2486629241 ESCO2 Health Risk Pathogenic —
RS2486629264 ESCO2 Health Risk Pathogenic —
RS2486629416 ESCO2 Health Risk Pathogenic —
RS2486629474 ESCO2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2486637207 ESCO2 Health Risk Pathogenic —
RS2486637516 ESCO2 Health Risk Pathogenic —
RS2486644720 ESCO2 Health Risk Pathogenic —
RS2486654067 ESCO2 Health Risk Likely pathogenic —
RS2486654234 ESCO2 Health Risk Pathogenic —
RS2486656881 ESCO2 Health Risk Likely pathogenic —
RS2486657253 ESCO2 Health Risk Pathogenic —
RS2486663680 ESCO2 Health Risk Pathogenic —
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