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
RS1471253618 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS147125369 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS147125937 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS1471259864 SCO2 Health Risk Likely pathogenic —
RS147127121 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS147127279 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS147128863 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS147130318 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1471306684 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1471308449 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS147130891 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS147131010 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS147131392 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS147131853 ARHGEF6 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Intellectual disability
RS1471326272 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1471328495 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS147132904 SPTAN1 Health Risk Conflicting classifications of pathogenicity Bilateral tonic-clonic seizure, Developmental and epileptic encephalopathy
RS147133475 DDHD1 Health Risk Likely pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS147134081 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471344734 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS147134796 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS147134923 DGKD Health Risk Conflicting classifications of pathogenicity DGKD-related disorder, DGKD-related disorder
RS147135294 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases
RS147135554 AP4S1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 52
RS147135956 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1471359934 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS147136011 OR4P4 Health Risk Conflicting classifications of pathogenicity —
RS1471362858 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS147136371 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS147136417 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147136530 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS1471365409 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS147136935 ANO6 Health Risk Conflicting classifications of pathogenicity ANO6-related disorder, Inborn genetic diseases
RS147137349 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS147137913 TSHR Health Risk Conflicting classifications of pathogenicity —
RS1471379682 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS147138315 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS147139414 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS147139671 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS1471406283 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1471414348 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS147141584 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147142116 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS147143094 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1471435242 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS147143593 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Amyotrophic lateral sclerosis 27
RS147143947 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147145234 FLG Health Risk Pathogenic Inborn genetic diseases, Ichthyosis vulgaris
RS147146258 CACNA1D Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS1471465037 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS147146713 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS147146776 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS147147042 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147147276 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS147147660 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS1471478620 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1471479119 STAG1 Health Risk Conflicting classifications of pathogenicity STAG1-related disorder, Intellectual disability
RS1471482709 SMARCA2 Health Risk association SMARCA2-related BAFopathy, Vein of Galen aneurysmal malformation
RS1471484901 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1471488189 DYM Health Risk Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS147148985 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, XYLT2-related disorder
RS147149347 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS147149459 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis
RS147149511 DNAAF4 Health Risk Conflicting classifications of pathogenicity DNAAF4-related disorder, DNAAF4-related disorder
RS1471500386 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1471515174 LAMB1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS147151719 OTOF Health Risk Likely pathogenic —
RS147151922 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2
RS147152025 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, Inborn genetic diseases
RS147153006 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS147153370 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1471534246 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147154581 GCLC Health Risk Conflicting classifications of pathogenicity —
RS147154607 WDR35 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 7 with or without polydactyly
RS147154764 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
RS147154947 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS147155003 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS1471550984 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1471554906 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS1471557079 PLOD1 Health Risk Pathogenic —
RS147155709 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS147157308 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS147157552 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS1471576368 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1471582038 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic —
RS147158259 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Inborn genetic diseases
RS147158327 SFTPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471587230 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS147158850 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS147159176 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS147159579 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS147159813 SCARB2 Health Risk Conflicting classifications of pathogenicity Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS147160053 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS147160147 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1471604421 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Seizure
RS1471607090 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS147162135 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471622578 COL11A2 Health Risk Pathogenic —
RS1471624682 CHST6 Health Risk Likely pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS147162838 CYP7A1 Health Risk Conflicting classifications of pathogenicity CYP7A1-related disorder, CYP7A1-related disorder
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