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
RS149094276 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS149094407 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS149095128 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS149095705 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Autism spectrum disorder
RS149096315 PYGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VI
RS1490966994 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS149096794 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS149097636 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS1490988278 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS149099078 XRCC2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group U, Hereditary cancer-predisposing syndrome
RS149099819 ACAN Health Risk Conflicting classifications of pathogenicity —
RS1490999340 NDUFS4 Health Risk Pathogenic —
RS149101001 LIMS2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
RS149101687 PSAT1 Health Risk Conflicting classifications of pathogenicity Neu-Laxova syndrome 2, PSAT1-related disorder
RS149101812 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS149102421 POP1 Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 2, Inborn genetic diseases
RS149102738 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), PEX5-related disorder
RS149103293 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149103381 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS149103415 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1491048605 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS149105551 FLG Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ichthyosis vulgaris
RS149106712 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS149107232 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS149108037 CNOT3 Health Risk Conflicting classifications of pathogenicity Moyamoya angiopathy with developmental delay, Inborn genetic diseases
RS149108442 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS149108761 PIGQ Health Risk Conflicting classifications of pathogenicity PIGQ-related disorder, Developmental and epileptic encephalopathy
RS149109733 RBM10 Health Risk Conflicting classifications of pathogenicity —
RS149109801 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS149110742 PHIP Health Risk Conflicting classifications of pathogenicity —
RS149110828 GJB4 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS149110951 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1491110483 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS149111536 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS149112292 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1491132258 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS149113630 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS1491142370 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS149114271 ATP2B3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1491154396 MOCS2 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS149116708 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS149116878 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS149117118 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS149117119 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS149119710 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS149119723 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
RS1491200209 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1491203033 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS149120354 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS149120526 NARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, impaired language
RS1491209806 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1491211155 CAD Health Risk Pathogenic —
RS149121159 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS149121189 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, SGCB-related disorder
RS149121639 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS149121681 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS149121781 PRORP Health Risk Conflicting classifications of pathogenicity —
RS149122003 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, Inborn genetic diseases
RS1491220784 FLAD1 Health Risk Pathogenic —
RS149122494 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS149122717 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS149123373 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS149123428 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1491234697 TUBGCP6 Health Risk Pathogenic —
RS1491240980 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS149124864 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149126845 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS149126874 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS149126953 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1491270557 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS149127230 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS149128100 PHGDH Health Risk Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS149128439 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149128755 PRKCB Health Risk Conflicting classifications of pathogenicity PRKCB-related disorder, PRKCB-related disorder
RS149129214 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS149130280 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS149130938 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS149131360 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS149131555 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149132399 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149133270 MPO Health Risk Conflicting classifications of pathogenicity MPO-related disorder, MPO-related disorder
RS1491334480 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS149133690 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS149133805 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS1491338232 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS149133845 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149133920 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1491369358 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1491384052 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS149138591 MIOX Health Risk Conflicting classifications of pathogenicity —
RS149139347 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149141477 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS149142111 PLS3 Health Risk Conflicting classifications of pathogenicity PLS3-related disorder, Inborn genetic diseases
RS149142237 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS1491439367 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS149144720 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Migraine
RS149145548 RELA Health Risk Pathogenic Mucocutaneous ulceration, chronic
RS149145821 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS149145987 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS149146258 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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