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
RS767267531 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS767268139 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS767269111 AAAS Health Risk Pathogenic —
RS767269190 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS767269509 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS767270134 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS767270627 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, SAMD9-related disorder
RS767271426 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS767271619 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS767271650 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS767272289 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS767273026 CRX Health Risk Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS767273237 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS767273601 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS767273694 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Lung cancer
RS767274970 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767275130 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS767275467 IDH3B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 46, Retinitis pigmentosa 46
RS767275498 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS767276283 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS767276423 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767276752 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS767277745 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS767278261 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS767278544 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS767279296 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS767279633 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS767279710 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS767280377 NBAS Health Risk Pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS767281295 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS767281564 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS767281996 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS767282292 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767284244 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS767284889 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS767286042 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS767286063 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS767286082 PCARE Health Risk Pathogenic —
RS767287779 CDK12 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS767288107 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS767288576 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS767289120 CTNS Health Risk Likely pathogenic Inborn genetic diseases, Ocular cystinosis
RS767291598 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases
RS767291633 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS767292450 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS767292865 PSMB8 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS767293228 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS767293635 HMBS Health Risk Pathogenic —
RS767293952 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS767294195 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS767297496 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS767298163 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS767298430 COQ2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Inborn genetic diseases
RS767300470 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Melanoma
RS767301100 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS767301647 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS767302112 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS767302772 NEB Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS767304692 BRF1 Health Risk Conflicting classifications of pathogenicity Cerebellar-facial-dental syndrome, Inborn genetic diseases
RS767304770 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS767304792 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS767306816 MECOM Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS767308949 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS767309501 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS767310648 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS767310806 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS767312168 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767312869 ABCA4 Health Risk Pathogenic Squamous cell lung carcinoma, Squamous cell lung carcinoma
RS767313156 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS76731700 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis
RS767317022 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS767317539 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS767317924 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS767318526 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767318857 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-epilepsy-extrapyramidal syndrome, DEAF1-related disorder
RS767319284 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS767319971 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS767319988 LRP1 Health Risk Pathogenic Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
RS767322248 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS767323371 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS767324023 OCLN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767324448 EMC1 Health Risk Pathogenic —
RS767324545 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767324610 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS767325003 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15
RS767325029 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS767325252 MC4R Health Risk Likely pathogenic Obesity due to melanocortin 4 receptor deficiency, Obesity due to melanocortin 4 receptor deficiency
RS767325342 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Uterine corpus endometrial carcinoma
RS767325554 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS767325816 SAMD9 Health Risk Likely pathogenic —
RS767325921 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS767326758 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS767327489 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS767327888 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS767328072 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS767328169 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS767328300 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767328513 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS767328693 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS767328784 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
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