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
RS367623084 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
RS367624488 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS367624766 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS367624903 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS367625071 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS367625370 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS367625961 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS367626762 NEB Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Nemaline myopathy 2
RS367627378 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS367627441 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS367627564 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS367627571 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS367627674 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367628451 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS367628460 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS367628980 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS367629024 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS367630003 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS367630521 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS367630668 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS367631313 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367631575 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
RS367632078 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS367632896 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS367634266 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS367634278 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS367634525 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS367634557 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS367634881 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS367635298 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS367636785 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS367638234 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS367638447 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS367638648 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, Inborn genetic diseases
RS367639262 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367640165 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia
RS367640259 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS367640320 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS367640434 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS367640600 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367641692 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367641723 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS367642241 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS367642720 VPS16 Health Risk Pathogenic Dystonia 30, Dystonia 30
RS367642766 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367643097 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS367643250 DYRK1B Health Risk Pathogenic Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3
RS367643805 COL5A2 Health Risk Conflicting classifications of pathogenicity Disproportionate tall stature, Familial thoracic aortic aneurysm and aortic dissection
RS367645097 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS367645298 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS367647802 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS367648410 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder
RS367648529 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367649187 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS367649632 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders
RS367649718 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS367650121 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS367650141 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS367651246 LAMA3 Health Risk Pathogenic/Likely pathogenic LAMA3-related disorder, Epidermolysis bullosa
RS367654095 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS367654370 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS367654488 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS367654552 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS367654655 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS367655073 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS367655833 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome
RS367656044 RNASET2 Health Risk Pathogenic —
RS367656088 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS367656336 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS367657320 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS367658130 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS367658234 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS367658438 PCARE Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS367658497 TNNT3 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS367658663 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait
RS367661167 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS367661800 TNXB Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS367662190 FKTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
RS367662394 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS367663236 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cyclical neutropenia
RS367663649 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS367664486 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS367664536 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS367665090 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367665974 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Inborn genetic diseases
RS367667018 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atrial conduction disease
RS367667489 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS367668576 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS367668687 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS367669362 PIK3R1 Health Risk Pathogenic Agammaglobulinemia 7, autosomal recessive
RS367669399 ADAMTSL4 Health Risk Pathogenic —
RS367670668 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367671600 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS367672629 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS367672895 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS367673752 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS367674026 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS367674546 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS367674632 HPD Health Risk Pathogenic/Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS367674709 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
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