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
RS754892238 MADD Health Risk Pathogenic/Likely pathogenic —
RS754892377 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS754893423 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Amyotrophic lateral sclerosis type 1
RS754893576 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS754893727 ABCG5 Health Risk Likely pathogenic Sitosterolemia, Sitosterolemia
RS754893934 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS754894257 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS754895072 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS754895386 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Inborn genetic diseases
RS754895962 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS754896169 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS754896795 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS754897911 TBX4 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension
RS754898479 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS754899711 ABCA4 Health Risk Pathogenic Stargardt disease, Retinitis pigmentosa
RS754900484 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS754901294 FXR1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS754901414 STT3B Health Risk Conflicting classifications of pathogenicity STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
RS754902005 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes-Brocks syndrome 1
RS754902598 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS754903785 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS754904956 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS754906673 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS754906806 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS754907965 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS754908088 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754909135 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS754909198 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754910706 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS754911118 TTC21B Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS754912569 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS754912778 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS754913230 FOXD4 Health Risk Conflicting classifications of pathogenicity —
RS754914260 DCC Health Risk Pathogenic Mirror movements 1, Corpus callosum
RS754914420 ADCY3 Health Risk risk factor BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
RS754914807 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS754915138 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754915287 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS754916169 MAK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 62
RS754916277 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS754916421 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS754916822 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS75491697 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS754917229 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS754917939 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754919042 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS754919065 TRPC6 Health Risk Conflicting classifications of pathogenicity TRPC6-related disorder, Inborn genetic diseases
RS754919272 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Intellectual disability
RS754919275 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS754919490 CYP4V2 Health Risk Pathogenic —
RS754921053 GRID1 Health Risk Pathogenic GRID1-associated neurodevelopmental disorder, GRID1-associated neurodevelopmental disorder
RS754921505 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS754921704 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS754921908 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS754922174 TGM1 Health Risk Likely pathogenic —
RS754923656 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS754924433 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS754924716 HFM1 Health Risk Likely pathogenic Premature ovarian failure 9, Premature ovarian failure 9
RS754927479 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754928609 CHRNG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome
RS754928680 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS754929108 JARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS754929157 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS754929230 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS754929349 GP6 Health Risk Pathogenic Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
RS754929654 NIPBL Health Risk Pathogenic —
RS754929718 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS754930082 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS754930340 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754930571 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS754930928 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia type I
RS754930934 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS754932150 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754932526 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS754933794 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS754934987 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS754935637 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS754936373 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS754936421 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS754937769 SKIC2 Health Risk Pathogenic —
RS754937863 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS754938068 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS754938191 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS754938612 WT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wilms tumor 1
RS754938624 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754939638 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS754942883 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS754943076 SMARCA2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS754943606 C9 Health Risk Pathogenic —
RS754944119 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS754944359 AP4S1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 52
RS754944429 AP4E1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS754944605 WDR37 Health Risk Conflicting classifications of pathogenicity WDR37-related disorder, WDR37-related disorder
RS754944896 ABCG5 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Sitosterolemia 2
RS754944912 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS754946168 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS754946422 CNGB3 Health Risk Pathogenic —
RS754948438 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754948598 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754949360 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
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