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
RS369803320 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS369803323 ADCY3 Health Risk Conflicting classifications of pathogenicity ADCY3-related disorder, Inborn genetic diseases
RS369803831 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS369803886 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS369803887 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS369804720 DHX37 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Inborn genetic diseases
RS369804770 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS369804798 SLC6A19 Health Risk Likely pathogenic —
RS369804864 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS369804957 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS369805010 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, TSEN54-related disorder
RS369806756 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS369806785 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS369806898 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS369807746 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hereditary hemochromatosis
RS369808582 BAAT Health Risk Pathogenic Bile acid conjugation defect 1, Bile acid conjugation defect 1
RS369810404 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS369810455 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS369810811 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS369811073 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS369812327 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel syndrome
RS369813191 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS369813654 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS369814614 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS369814664 COL4A2 Health Risk Conflicting classifications of pathogenicity COL4A2-related disorder, COL4A2-related disorder
RS369815021 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS369815468 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, RECQL4-related disorder
RS369817589 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS369818702 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS369818845 POFUT1 Health Risk Pathogenic POFUT1-related disorder, POFUT1-related disorder
RS369821143 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS369821286 LRIT3 Health Risk Conflicting classifications of pathogenicity —
RS369821399 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS369821666 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369822469 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS369823368 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Papillary renal cell carcinoma type 1
RS369824303 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369824948 NDUFB9 Health Risk Conflicting classifications of pathogenicity —
RS369825360 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
RS369825780 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS369828060 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS369829562 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS369829791 CHM Health Risk Conflicting classifications of pathogenicity Choroideremia, Choroideremia
RS369830406 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS369830440 MC2R Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS369830496 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
RS369830657 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS369832792 NLGN4X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369834416 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS369834971 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS369835255 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369835365 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369835611 NEXMIF Health Risk Pathogenic —
RS369838129 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS369838467 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS369838833 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS369839378 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS369839636 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS369841551 MC4R Health Risk Pathogenic/Likely pathogenic Obesity, Monogenic diabetes
RS369841673 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS369842871 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS369842920 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS369843749 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS369844245 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS369844484 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS369844902 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369845358 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369846760 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS369848545 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS369849214 KIF1A Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Neuropathy
RS369849387 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS369849667 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS369851101 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS369851185 PEX13 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS369851648 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS369851959 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS369852737 RARS2 Health Risk Conflicting classifications of pathogenicity —
RS369853017 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS369853278 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS369853630 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS369855073 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS369855092 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS369856286 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS369856411 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369857789 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS369858004 CYFIP2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 65
RS369858688 CPAMD8 Health Risk Pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis
RS369859575 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS369859767 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369859861 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS369860222 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS369860406 ABCA4 Health Risk Pathogenic —
RS369860506 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS369862935 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS369863178 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS369864220 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369865437 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS369865521 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS369865672 VSX1 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy, VSX1-related disorder
RS369865835 AMN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
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