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
RS766044536 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS766044564 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS766044613 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS766044684 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS766044749 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS766045217 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS766045910 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS766046008 INPP5K Health Risk Pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS766046177 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS766047812 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS766049052 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766049739 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS766050153 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS766051225 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia
RS766051613 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS766053182 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS766053734 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS766053952 DHX38 Health Risk Likely pathogenic Retinitis pigmentosa 84, Autosomal recessive retinitis pigmentosa
RS766054125 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS766054897 RAB28 Health Risk Likely pathogenic —
RS766055241 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS766055427 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS766055577 GNPTG Health Risk Pathogenic —
RS766055659 PI4K2A Health Risk Pathogenic Neurodevelopmental disorder with hyperkinetic movements, seizures
RS766056004 WDPCP Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, WDPCP-related disorder
RS766057861 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS766058276 ROR2 Health Risk Pathogenic —
RS766058636 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS766058852 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS766061024 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS766061901 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS766062562 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS766063111 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Cardiovascular phenotype
RS766063253 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS766063304 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS766066977 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS766067138 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766068851 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS766069252 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766069291 AHI1 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS766072117 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS766072141 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS766073664 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS766073729 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS766074604 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766074609 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS766075840 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS766076524 SLC9A3 Health Risk Pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS766076722 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS766076920 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS766078852 EPHA2 Health Risk Likely pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS766079334 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS766080044 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766080208 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS766080221 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS766080270 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS766080403 C8B Health Risk Likely pathogenic Cholangiocarcinoma, Cholangiocarcinoma
RS766081510 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS766083746 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS766084603 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS766085073 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Tip-toe gait
RS766085522 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS766086010 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS766086120 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS766086210 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Ovarian cancer
RS766086544 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS766086682 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766087007 TRIT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS766087213 CFAP418 Health Risk Pathogenic Bardet-biedl syndrome 21, Bardet-biedl syndrome 21
RS766088687 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS766088717 PDE6B Health Risk Likely pathogenic —
RS766089213 SKIC2 Health Risk Pathogenic —
RS766090540 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS766091136 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS766093573 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766093661 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766094434 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS766095051 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS766095612 CREBBP Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Menke-Hennekam syndrome 1
RS766095901 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS766096320 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS766096417 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS766097440 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS766097494 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS766098800 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS766098919 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS766099303 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766100418 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS766102187 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS766102716 ERBB3 Health Risk Pathogenic Visceral neuropathy, familial
RS766102981 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS766104513 SAG Health Risk Likely pathogenic Retinitis pigmentosa, Oguchi disease
RS766104579 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS766104877 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS766105286 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS766106194 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS766106312 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS766106686 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS766106748 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766106805 FAM20C Health Risk Conflicting classifications of pathogenicity —
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