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
RS542760632 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS542761263 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS542772429 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS542776862 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS542793579 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS542798262 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS542799026 FLG Health Risk Pathogenic Ichthyosis vulgaris, Dermatitis
RS542799064 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS542799302 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS542802167 ITGA3 Health Risk Conflicting classifications of pathogenicity ITGA3-related disorder, ITGA3-related disorder
RS542803991 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS542809148 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS542810348 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS542811477 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS542821407 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS542824372 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS542825558 KRT9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542831744 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS542835031 KCNE2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS542835085 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS542838372 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS542839921 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS542841506 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS542842233 KCNE3 Health Risk Conflicting classifications of pathogenicity Prolonged QT interval, Brugada syndrome 6
RS542848931 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS542851656 HTRA2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 13, autosomal dominant
RS542852839 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS542856213 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS542856470 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS542859849 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS542860516 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542863545 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS542863867 EPHB4 Health Risk Conflicting classifications of pathogenicity —
RS542870641 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS542878693 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS542880173 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS542881762 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS542885983 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS542886784 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS542893403 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS542914369 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS542919944 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS542939338 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS542940704 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS542947894 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS542953863 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS542961309 KCNJ11 Health Risk Pathogenic —
RS542961456 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS542965042 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS542965530 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS542967227 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS542970560 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS542973906 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Idiopathic generalized epilepsy
RS542976402 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS542977017 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS542983923 KDM5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 65
RS542986432 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS542998031 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS543016186 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Thrombophilia due to thrombin defect
RS543026464 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS543029288 MMUT Health Risk Pathogenic Lung cancer, Lung cancer
RS543030688 ACTC1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS543041170 UNC119 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS543042380 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS543042440 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS543050989 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS543054543 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS543062539 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS543063101 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS543070592 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543071358 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS543077026 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS543084403 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS543098847 APC Health Risk Conflicting classifications of pathogenicity Desmoid disease, hereditary
RS543098936 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Nonsyndromic genetic hearing loss
RS543099977 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS543100735 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS543101195 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS543102139 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS543104462 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS543115615 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543120965 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS543122080 TMEM231 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 20, Meckel syndrome
RS543122580 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS543131176 F11 Health Risk Pathogenic —
RS543163491 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS543166165 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 8
RS543167736 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS543171228 OTOG Health Risk Conflicting classifications of pathogenicity —
RS543181020 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS543195772 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543196752 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS543199135 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS543202207 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543202804 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS543206298 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS543214840 CDH3 Health Risk Conflicting classifications of pathogenicity —
RS543222535 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS543226684 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases
RS543233802 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Connective tissue disorder
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