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
RS776628325 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS776630032 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS776630512 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS776630880 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS776631057 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS776631281 WDR35 Health Risk Likely pathogenic Jeune thoracic dystrophy, Cranioectodermal dysplasia 2
RS77663135 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776631396 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS776631782 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS776632212 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS776633158 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS776633672 TTN Health Risk Conflicting classifications of pathogenicity —
RS776634113 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS776634869 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS776635100 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS776638497 SLC45A2 Health Risk Conflicting classifications of pathogenicity —
RS776639203 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS776639304 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS776640127 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS776640310 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS776640595 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS776640704 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS776641008 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS776641714 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS776641719 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS776643257 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS776643344 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS776643576 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS776643693 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS776644374 MERTK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa
RS776644722 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS776645239 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS776645403 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS776645614 PRORP Health Risk Conflicting classifications of pathogenicity —
RS776645730 SASS6 Health Risk Conflicting classifications of pathogenicity Microcephaly 14, primary
RS776648566 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS776649638 TSPYL1 Health Risk Conflicting classifications of pathogenicity Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
RS776649998 FOXF1 Health Risk Conflicting classifications of pathogenicity Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS776650691 PI4KA Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 2, Gastrointestinal defects and immunodeficiency syndrome 2
RS776650813 MYL4 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS776652341 CEP152 Health Risk Pathogenic —
RS776652690 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS776654329 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS776654695 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS776655093 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS776655838 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776656223 HSD3B2 Health Risk Pathogenic —
RS776656740 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776657932 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS776658046 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS776658284 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776659347 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS776659376 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS776660221 PTCD3 Health Risk Likely pathogenic PTCD3-related disorder, PTCD3-related disorder
RS776661077 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS776662758 ASPM Health Risk Conflicting classifications of pathogenicity —
RS776663458 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS776664093 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS776664220 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS776664699 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS776665329 TMEM237 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 14, Joubert syndrome and related disorders
RS776666835 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776667707 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS776667863 KRT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776668666 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS776670060 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS776671066 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS776671484 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776671941 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776672249 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776672640 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS776673720 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS776673877 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS776673912 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776674939 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS776676512 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776676564 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS776676676 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776678008 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS776678308 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776679653 ISCA1 Health Risk Conflicting classifications of pathogenicity Fatal multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 5
RS776679937 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776680378 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS776680924 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS776681345 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS776681366 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS776681603 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
RS776681643 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS776682000 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS77668214 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Kugelberg-Welander disease
RS776682510 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS776682674 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS776683312 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776684546 PRSS56 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Isolated microphthalmia 6
RS776685250 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram-like syndrome, Cataract 41
RS776686983 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS776687068 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS776687469 WDR19 Health Risk Likely pathogenic —
RS776689179 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS776690106 SUOX Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
« Prev 1 ... 3627 3628 3629 3630 3631 3632 3633 ... 4509 Next »

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

Get Started Free →