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
RS201030273 CCBE1 Health Risk Conflicting classifications of pathogenicity —
RS201030628 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS201030692 ATXN1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 1
RS201030784 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS201030937 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS201030953 DNASE2 Health Risk Pathogenic Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
RS201031137 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS201031155 ITPR3 Health Risk Conflicting classifications of pathogenicity —
RS201031378 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS201031650 RDX Health Risk Conflicting classifications of pathogenicity —
RS201031986 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS201032007 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201032266 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS201032284 GHR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201032343 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS201032669 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, RSPH9-related disorder
RS201032696 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Pelizaeus-Merzbacher disease
RS201032988 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS201033016 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS201033017 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS201033114 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS201033267 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS201033294 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS201033437 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
RS201033539 NRCAM Health Risk Pathogenic NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS201033555 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS201033926 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS201034113 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, SP110-related disorder
RS201034372 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, DNAAF1-related disorder
RS201034510 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS201034755 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS201034819 C8A Health Risk Conflicting classifications of pathogenicity —
RS201034965 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201035005 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201035068 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201035457 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201035486 COL9A1 Health Risk Likely pathogenic Stickler syndrome, type 4
RS201035511 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS201035625 NLRP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
RS201035635 SEC16B Health Risk Conflicting classifications of pathogenicity —
RS201035636 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS201035780 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS201035873 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS201036096 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS201036204 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS201036248 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glycogen storage disease
RS201036817 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201037487 FAM98C Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Autism spectrum disorder
RS201037601 RELA Health Risk Conflicting classifications of pathogenicity —
RS201037656 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS201037775 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS201037895 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201037977 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS201038000 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS201038287 LRIG2 Health Risk Conflicting classifications of pathogenicity LRIG2-related disorder, LRIG2-related disorder
RS201038679 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS201038907 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201039304 SLC16A2 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Spastic paraplegia
RS201039350 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Ovarian serous cystadenocarcinoma
RS201039801 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS201039834 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201040727 EPHA4 Health Risk Conflicting classifications of pathogenicity —
RS201041465 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS201041536 GNB5 Health Risk Pathogenic/Likely pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS201041690 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS201041716 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201041864 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS201042302 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS201042393 AP3D1 Health Risk Conflicting classifications of pathogenicity —
RS201042435 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS201042606 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201042677 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201042802 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201042910 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS201042940 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS201043011 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Inborn genetic diseases
RS201043042 PLPBP Health Risk Pathogenic —
RS201043325 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS201043335 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS201043592 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS201043872 SCYL1 Health Risk Conflicting classifications of pathogenicity SCYL1-related disorder, SCYL1-related disorder
RS201043922 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS201043950 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS201044013 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney
RS201044262 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS201044613 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS201045158 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Intellectual disability
RS201045495 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201045559 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS201045619 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN8A-related disorder
RS201045690 LAMA3 Health Risk Conflicting classifications of pathogenicity —
RS201046156 PLPBP Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS201046342 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS201046640 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Cardiovascular phenotype
RS201046715 CABP4 Health Risk Likely pathogenic —
RS201046911 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201046979 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS201047375 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS201047812 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201047984 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
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