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
RS374892647 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS374893494 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS374893678 TTN Health Risk Conflicting classifications of pathogenicity —
RS374893682 GPAA1 Health Risk Pathogenic —
RS374893731 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS374894037 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Spastic paraplegia
RS374894182 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374896268 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS374896651 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS374897753 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VATER association
RS374898022 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS374898583 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS374899270 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS374899324 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS374899586 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS374899663 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder
RS374901174 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS374902148 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374902867 OTOF Health Risk Conflicting classifications of pathogenicity —
RS374902910 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS374903045 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS374903153 CAMTA1 Health Risk Conflicting classifications of pathogenicity —
RS374904700 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS374905114 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374905727 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS374907377 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS374907737 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS374908367 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS374909386 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS374910216 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS374910310 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374910618 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS374911318 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS374911841 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS374912181 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS374912424 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS374912618 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS374912668 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS374913031 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374913800 GNAT1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1G, Congenital stationary night blindness 1G
RS374913823 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS374913826 KRT2 Health Risk Conflicting classifications of pathogenicity Ichthyosis bullosa of Siemens, Inborn genetic diseases
RS374913902 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS374914263 VPS16 Health Risk Conflicting classifications of pathogenicity VPS16-related disorder, VPS16-related disorder
RS374914334 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374916974 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS374917069 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS374918502 NTRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
RS374919043 SPOUT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS374919553 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS374919826 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS374919986 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS374920141 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS374920916 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374922166 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS374922455 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases
RS374923808 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374924686 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS374925943 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS374926367 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS374926748 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS374927338 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS374928005 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS374928025 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS374928584 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS374928784 ALG1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS374928824 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS374929094 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS374929612 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS374929970 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS374930028 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS374930132 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS374930292 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374930316 SAG Health Risk Pathogenic —
RS374930846 CNTN1 Health Risk Likely pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS374931542 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS374932152 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Inborn genetic diseases
RS374932417 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374932537 CD99L2 Health Risk Conflicting classifications of pathogenicity —
RS374934430 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS374934704 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS374935235 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS374936130 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, childhood-onset
RS374936223 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS374936250 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS374937158 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS374937694 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS374937899 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS374937961 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS374937969 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS374938148 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS374939930 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Familial cancer of breast
RS374939956 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS374940427 PCDH15 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS374941032 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Sarcoma
RS374941096 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS374941593 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS374941865 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS374942288 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS374943049 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Transitory neonatal diabetes mellitus
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