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
RS756254959 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS756255206 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS756256415 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756256793 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS756256851 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder
RS756257487 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS756258247 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS756258615 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS756258757 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS756259125 MKKS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 6
RS756259590 DOCK7 Health Risk Likely pathogenic Thymoma, Thymoma
RS756259685 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases
RS756260929 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS756263074 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS756263511 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS756263581 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756264715 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS756265438 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS756266678 FLNB Health Risk Conflicting classifications of pathogenicity —
RS756266694 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS756267448 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS756267575 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS756272200 UPB1 Health Risk Pathogenic —
RS756272252 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS756272570 IL12RB1 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS756272627 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS756274541 ACP4 Health Risk Likely pathogenic Amelogenesis imperfecta, type 1J
RS756275242 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756275304 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS756275505 FRMD7 Health Risk Conflicting classifications of pathogenicity FRMD7-related disorder, Inborn genetic diseases
RS756276537 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS756276591 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS756276800 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756276859 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS756276943 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS756280582 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS756281918 ATP6V0A4 Health Risk Likely pathogenic Renal tubular acidosis, distal
RS756282138 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS756282849 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS756283165 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756284324 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS756286159 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS756287691 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS756287836 PLG Health Risk risk factor Cystic fibrosis, Cystic fibrosis
RS756288143 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS756288878 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS756290185 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS756294219 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756294311 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, See cases
RS756295016 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS756295421 LAMA3 Health Risk Pathogenic —
RS756297543 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS756298987 GATAD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756299268 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS756300449 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS756300560 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS756300813 CYP27B1 Health Risk Pathogenic —
RS756300837 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS756301031 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS756301317 AMHR2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS756302161 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Gastric cancer
RS756302731 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS756303311 P4HB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756303853 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS756303996 ERBIN Health Risk Conflicting classifications of pathogenicity —
RS756304012 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS756304890 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS756306151 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS756307525 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS756308787 FIG4 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 11, Yunis-Varon syndrome
RS756309633 ZMIZ1 Health Risk Likely pathogenic —
RS756309899 SCP2 Health Risk Pathogenic —
RS756310864 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS756310979 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS756311258 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS756311924 TTLL5 Health Risk Likely pathogenic —
RS756312205 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756313208 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS756313788 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS756314192 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756314710 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS756315327 EIF2AK4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS756316460 SLC4A1 Health Risk Likely pathogenic —
RS756316567 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS756317039 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type
RS756318406 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS756320900 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS75632091 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS756321686 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS756322372 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS756322608 TJP2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 51, Autosomal dominant nonsyndromic hearing loss 51
RS756323038 SLC7A9 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS756323541 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS756324342 MYO7A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1B
RS756324901 PDE6C Health Risk Pathogenic Achromatopsia, Achromatopsia
RS756325364 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS756325504 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS756326114 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS756328102 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS756328339 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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