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
RS746370555 LIFR Health Risk Likely pathogenic —
RS746370607 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS746371148 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746372120 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS746372139 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS746372685 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS746373917 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS746375297 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS746376570 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS746380834 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS746380940 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS746382157 MTO1 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS746382259 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS746382653 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS746382885 SPTA1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS746383265 COX15 Health Risk Likely pathogenic —
RS746383287 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic 27
RS74638331 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS746383817 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS746383908 NYX Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS746384382 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS746384751 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS746385384 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746386175 TECTA Health Risk Likely pathogenic —
RS746386351 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS746387441 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS746387482 CEP63 Health Risk Likely pathogenic Seckel syndrome 6, Seckel syndrome 6
RS746388510 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS746390263 DIAPH3 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS746390776 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS746391651 CSGALNACT1 Health Risk Conflicting classifications of pathogenicity Skeletal dysplasia, mild
RS746392266 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS746392434 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS746392495 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS746392709 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS746393019 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746395249 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS746395542 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS746396165 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
RS746396210 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS746396730 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS746397087 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS746398873 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS746399537 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS746400023 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746401119 LAMC3 Health Risk Pathogenic —
RS746401512 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS746401769 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa
RS746403177 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS746403693 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS746404398 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Myasthenic syndrome
RS746404427 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746404657 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS746404785 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Inborn genetic diseases
RS746405080 NDUFAF5 Health Risk Likely pathogenic —
RS746405100 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS746405191 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS746405809 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS746406399 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS746406926 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746407358 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, HEXB-related disorder
RS746407476 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS746408350 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS746409545 TMIE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746409565 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS746410402 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746412506 PPP3CA Health Risk Conflicting classifications of pathogenicity Arthrogryposis, cleft palate
RS746412703 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS746413385 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS746413398 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS746413622 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS746413821 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS746413844 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746414462 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS746414669 MPZL2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS746414951 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS746415747 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS746415983 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS746415991 CRIPT Health Risk Likely pathogenic —
RS746416077 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS746416284 LMNB1 Health Risk Conflicting classifications of pathogenicity Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
RS746418124 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS746418935 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS746419453 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS746419489 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS746420444 OPTN Health Risk Pathogenic Inborn genetic diseases, OPTN-related disorder
RS746420784 HCN2 Health Risk risk factor Febrile seizures, familial
RS746421213 TRMU Health Risk Conflicting classifications of pathogenicity —
RS746422101 TTN Health Risk Conflicting classifications of pathogenicity —
RS746422391 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS746425161 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS746425890 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS746427774 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS746428014 GTPBP3 Health Risk Pathogenic —
RS746428492 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS746428515 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS746429266 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS746429585 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS746430067 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, CEBPA-related disorder
RS746433619 P3H2 Health Risk Pathogenic —
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