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
RS12505679 PRSS12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 1
RS1250584991 IL2RA Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS1250598768 ANKRD11 Health Risk Pathogenic —
RS1250621196 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1250628602 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS1250642880 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1250652407 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1250662891 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Self-limited epilepsy with centrotemporal spikes
RS1250669587 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS1250669634 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1250670041 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1250676888 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1250688041 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1250691798 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1250702016 SON Health Risk Conflicting classifications of pathogenicity —
RS1250703588 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1250737342 TUB Health Risk Pathogenic —
RS1250741190 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1250752630 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1250753300 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease
RS1250753880 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1250767974 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1250768770 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1250779080 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1250796004 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1250826419 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS1250849257 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1250850814 SLC12A6 Health Risk Pathogenic —
RS1250853566 F7 Health Risk Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS1250853600 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1250874621 NDUFS7 Health Risk Likely pathogenic —
RS1250914690 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1250919247 IQCB1 Health Risk Likely pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS1250934752 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1250949842 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1250956327 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1250995341 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS1250997630 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1251033858 MSH6 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS1251042249 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS1251044974 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1251055364 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1251075016 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Cardiovascular phenotype
RS1251085820 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1251099671 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1251114548 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1251140817 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1251155562 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1251192873 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1251215582 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1251260760 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1251267106 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS1251286087 HBB Health Risk Conflicting classifications of pathogenicity —
RS1251299279 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1251382942 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1251438062 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1251443902 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1251445242 NR1H4 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1251456909 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1251473317 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1251501652 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1251509897 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1251538998 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1251539456 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS1251543692 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1251562545 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1251583221 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1251589256 ADNP Health Risk Conflicting classifications of pathogenicity —
RS1251597664 SOX11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1251606511 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1251608221 MYO15A Health Risk Pathogenic —
RS1251609154 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1251621684 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1251623714 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1251637752 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1251640049 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1251648799 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1251654299 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1251713297 PRMT7 Health Risk Pathogenic 15 conditions, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1251732657 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1251757869 LRRC32 Health Risk Likely pathogenic Cleft palate, proliferative retinopathy
RS1251772368 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS1251776677 KCNE5 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS1251778848 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1251780383 SLC38A8 Health Risk Pathogenic —
RS1251801615 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with movement abnormalities
RS1251807420 MMP21 Health Risk Likely pathogenic —
RS1251811392 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1251821702 SMARCE1 Health Risk Pathogenic Familial meningioma, Hereditary cancer-predisposing syndrome
RS1251827296 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1251833565 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1251833902 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1251838628 DSG2 Health Risk Likely pathogenic —
RS1251839466 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1251854904 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1251857523 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1251868441 PHEX Health Risk Pathogenic —
RS1251871091 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1251881194 TUSC3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 7
RS1251912299 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
« Prev 1 ... 312 313 314 315 316 317 318 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →