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
RS746433657 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS746433763 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746434205 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS746435041 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS746435405 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS746435548 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS746439998 MME Health Risk Pathogenic —
RS746440689 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS746441159 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS74644143 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS746442308 CBLL2 Health Risk Conflicting classifications of pathogenicity —
RS746442427 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS746442435 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS746442849 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS746443332 NOTCH4 Health Risk Conflicting classifications of pathogenicity —
RS746445847 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS746446116 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS746446349 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746447649 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS746448347 NADSYN1 Health Risk Likely pathogenic Vertebral, cardiac
RS746448519 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS746448681 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746448939 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS746449748 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS746451396 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS746451678 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS746453262 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS746453469 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS746453564 POLH Health Risk Pathogenic —
RS746453576 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS746453662 METTL23 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS746453731 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS746453879 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS746453954 MICU1 Health Risk Pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS746454126 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS746454994 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS746455223 DDHD2 Health Risk Likely pathogenic —
RS746455518 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS746457842 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 3, von Willebrand disorder
RS746458284 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS746458434 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS746458904 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746459536 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS746460070 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS746461825 TMPRSS3 Health Risk Pathogenic —
RS746462207 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS746462546 CAVIN4 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS746463725 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS746465070 AK2 Health Risk Likely pathogenic Reticular dysgenesis, Reticular dysgenesis
RS746467957 HS3ST6 Health Risk Pathogenic Angioedema, hereditary
RS746468689 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS746469117 OTOF Health Risk Pathogenic —
RS746469222 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS746470148 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS746470735 CARD9 Health Risk Pathogenic/Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS746471051 DSG2 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiomyopathy
RS746471452 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS746471701 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS746472081 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS746473847 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS746474528 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS746475628 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS746476066 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS746476599 MAP3K11 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS746477743 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746478253 WARS2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, mitochondrial
RS746478265 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS746479735 ALX4 Health Risk Likely pathogenic Parietal foramina 2, Parietal foramina 2
RS746480237 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS746480424 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS746480529 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS746480833 CHRNB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS746481984 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS746482504 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS746482522 FLVCR1 Health Risk Pathogenic/Likely pathogenic —
RS746482538 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS746482788 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS746483110 KARS1 Health Risk Pathogenic/Likely pathogenic —
RS746483297 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS746483754 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS746484082 WNK1 Health Risk Likely pathogenic Pseudohypoaldosteronism type 2C, Pseudohypoaldosteronism type 2C
RS746484679 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS746484727 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS746484929 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS746485916 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, ATP7B-related disorder
RS746486431 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS746486469 GAN Health Risk Pathogenic/Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS746486928 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS746487628 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS746487895 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746488412 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS746488455 ETFA Health Risk Conflicting classifications of pathogenicity Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency
RS746488526 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Nonpapillary renal cell carcinoma
RS746489312 ATP6V1E1 Health Risk Conflicting classifications of pathogenicity —
RS746489573 COQ7 Health Risk Conflicting classifications of pathogenicity Primary coenzyme Q10 deficiency 8, Neuronopathy
RS746490057 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS746490830 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS746491510 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS746492953 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS746493440 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 29
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