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
RS374618962 KIT Health Risk Conflicting classifications of pathogenicity Mastocytosis, Gastrointestinal stromal tumor
RS374619113 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, PKD1-related disorder
RS374619390 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS374619489 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS374620001 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374620036 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS374620255 TG Health Risk Pathogenic Congenital hypothyroidism, Iodotyrosyl coupling defect
RS374621913 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS374621936 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RRAS-related disorder
RS374623109 FSHB Health Risk Likely pathogenic Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS374623408 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS374625129 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS374625279 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS374625413 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS374625613 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS374625633 GJB2 Health Risk Pathogenic —
RS374626758 CEP135 Health Risk Conflicting classifications of pathogenicity CEP135-related disorder, CEP135-related disorder
RS374626826 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCM-related disorder
RS374627741 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Inborn genetic diseases
RS374628199 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS374628435 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374628714 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS374629171 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS374629549 PKD1 Health Risk Pathogenic —
RS374629909 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS374629919 MFSD2A Health Risk Conflicting classifications of pathogenicity Microcephaly 15, primary
RS374630707 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS374630822 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS374630957 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS374631591 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS374632016 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS374632843 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS374633238 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS374634079 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374634184 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS374635285 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS374635469 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS374636201 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS374637415 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS374639233 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS374639297 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS374639358 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS374639625 PPIL1 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 14
RS374639681 ARMC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374640774 FCSK Health Risk Conflicting classifications of pathogenicity —
RS374641355 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS374641885 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374642503 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS374642875 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, PRRT2-related disorder
RS374644720 ENG Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS374645146 C12orf4 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 66
RS374645683 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS374646299 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS374646337 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS374646539 RPL13 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS374648188 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS374648568 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, ABCG8-related disorder
RS374648585 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374648988 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS374649848 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS374650162 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS374650666 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS374652686 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS374652916 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS374654050 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS374654361 AP3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AP3B2-related disorder
RS374655042 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS374655146 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS374655803 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS374655951 WASHC2C Health Risk Conflicting classifications of pathogenicity —
RS374656017 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS374656370 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS374656732 FAM161A Health Risk Pathogenic —
RS374656811 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS374657234 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS3746574 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS374657927 RIPK1 Health Risk Pathogenic IL10-related early-onset inflammatory bowel disease, Inborn error of immunity
RS374658638 DYM Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome
RS374659656 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Hereditary cancer-predisposing syndrome
RS374659816 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS374660431 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS374661051 UQCRC2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS374661645 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Juvenile myoclonic epilepsy
RS374661866 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS374662170 KRIT1 Health Risk Pathogenic/Likely pathogenic —
RS374662467 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS374663067 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS374663422 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS374663693 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS374664141 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS374664255 ANO6 Health Risk Pathogenic SCOTT SYNDROME, ANO6-related disorder
RS374664941 ITGA8 Health Risk Pathogenic Renal hypodysplasia/aplasia 1, ITGA8-related disorder
RS374665486 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS374665929 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS374666326 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS374668045 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS374668781 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS374669316 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS374669775 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B
RS374670687 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
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