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
RS764156722 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764157190 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS764158113 UBR1 Health Risk Pathogenic —
RS764158202 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS764159237 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS764159372 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, FASN-related disorder
RS764159927 OTOG Health Risk Conflicting classifications of pathogenicity —
RS764160079 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS764160271 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
RS764160345 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764160563 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 8
RS764160782 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS764162255 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS764162597 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
RS764162842 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS764163418 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS764163895 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder
RS764164178 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS764164384 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS764164607 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS764164808 NBAS Health Risk Conflicting classifications of pathogenicity —
RS764164884 FYCO1 Health Risk Pathogenic/Likely pathogenic Abnormality of the eye, Cataract 18
RS764166022 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS764167122 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BPTF-related disorder
RS764168088 SLC2A1 Health Risk Conflicting classifications of pathogenicity —
RS764168489 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS764168526 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS764168768 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS764171223 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764171255 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS764171734 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764171953 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS764173488 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS764174111 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS764174354 TECRL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS764174474 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS764177808 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS764177838 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS764177904 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS764178205 CCDC88C Health Risk Pathogenic —
RS764178233 OTOGL Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 84B
RS764178736 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS764179161 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764179800 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS764179880 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS764180060 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS764180110 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS764180204 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS764180413 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS764180850 SOX10 Health Risk Conflicting classifications of pathogenicity SOX10-related disorder, SOX10-related disorder
RS764181464 NPHS1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, Finnish congenital nephrotic syndrome
RS764182382 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS764182496 FLG Health Risk Conflicting classifications of pathogenicity —
RS764182550 OTOA Health Risk Conflicting classifications of pathogenicity —
RS764182950 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS764185466 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS764185528 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS764185628 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS764186025 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS764186203 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS764186411 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS764186905 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS764188161 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS764188556 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS764189309 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS764189338 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS764189353 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS764189408 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS764189883 ZSWIM7 Health Risk Likely pathogenic Infertility disorder, Infertility disorder
RS764189986 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS764190606 LOX Health Risk Pathogenic —
RS764190942 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS764191178 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764191883 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS764192020 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS764193290 COL6A3 Health Risk Pathogenic/Likely pathogenic Dystonia 27, Bethlem myopathy 1A
RS764194945 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS764195249 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS764195998 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS764196019 XDH Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS764196059 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus
RS764196171 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS764196309 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS764196357 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS764196809 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS764197422 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS764199611 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS764200669 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764201055 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS764201220 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS764201887 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS764201905 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS764203302 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS764203580 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS76420383 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764205432 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS764207146 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS76420733 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS764207947 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS764208388 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
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