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
RS1784284453 SERAC1 Health Risk Pathogenic —
RS1784291698 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1784291936 SCUBE3 Health Risk Pathogenic Abnormality of the dentition, Abnormal facial shape
RS1784299649 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1784309424 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS1784326790 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1784334715 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1784335277 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1784370895 SNX14 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS17843776 UMPS Health Risk Conflicting classifications of pathogenicity Oroticaciduria, Hereditary orotic aciduria
RS17843847 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS17843866 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1784406093 AHI1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome 3
RS1784418088 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1784456045 HYCC1 Health Risk Pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS1784456196 HYCC1 Health Risk Pathogenic/Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS1784457199 CPLANE1 Health Risk Pathogenic —
RS1784470848 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1784498384 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1784516917 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Lynch syndrome 4
RS1784536095 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1784546407 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1784553913 KLHL7 Health Risk Pathogenic PERCHING syndrome, PERCHING syndrome
RS1784555118 KLHL7 Health Risk Pathogenic —
RS1784589315 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1784592491 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1784594432 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1784599832 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1784617227 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1784643052 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS1784654067 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17846721 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS17846731 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS17846762 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1784691873 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17846921 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1784692399 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS17846928 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS17847022 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS17847242 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS17847247 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS17847568 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS17847577 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Medulloblastoma
RS1784783734 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1784787989 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1784790339 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1784790883 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1784799038 ACTB Health Risk Likely pathogenic —
RS1784799235 ACTB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1784799612 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1784802468 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1784802825 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784803432 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784804225 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS1784806713 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS17848070 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS1784807172 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1784808075 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS17848085 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1784808623 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS17848089 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS1784808970 ACTB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1784809823 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784810588 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1784813193 ACTB Health Risk Likely pathogenic —
RS1784814248 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1784814819 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Developmental malformations-deafness-dystonia syndrome
RS1784814856 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784814961 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS17848224 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS17848229 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1784829872 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS17848383 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS1784839731 ACTB Health Risk Likely pathogenic —
RS1784841235 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784841309 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1784841830 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS17848485 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1784850566 ARID1B Health Risk Pathogenic —
RS1784882494 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1784885465 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1784886281 AHI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome
RS1784887448 AHI1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Joubert syndrome
RS1784888496 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1784889421 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1784890440 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS17849078 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Inborn genetic diseases
RS17849090 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN-related disorder
RS1784912657 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1784914735 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1784918128 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS1784919273 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS17849666 TTLL5 Health Risk Conflicting classifications of pathogenicity —
RS17849781 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1785058598 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1785094598 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17851028 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS17851045 KRAS Health Risk Conflicting classifications of pathogenicity Non-small cell lung carcinoma, Cerebral arteriovenous malformation
RS1785136807 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1785136884 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
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