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
RS138604630 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1386054181 LZTR1 Health Risk Conflicting classifications of pathogenicity Congenital diaphragmatic hernia, Cardiovascular phenotype
RS1386063673 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Endometrial carcinoma
RS138606879 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS138607111 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, MYH8-related disorder
RS138607170 SCN11A Health Risk Pathogenic/Likely pathogenic Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS138607722 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1386078325 MTOR Health Risk Conflicting classifications of pathogenicity —
RS138607917 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS138608089 DMRT2 Health Risk Conflicting classifications of pathogenicity DMRT2-related disorder, DMRT2-related disorder
RS138608489 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS138608490 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS138608619 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma
RS138609508 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS138609765 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS1386102245 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS138610575 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1386109118 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS138611001 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS138611390 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS138611889 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS138612126 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138612238 RTN4IP1 Health Risk Conflicting classifications of pathogenicity Optic atrophy 10 with or without ataxia, intellectual disability
RS1386125417 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS138612549 FOXC2 Health Risk Conflicting classifications of pathogenicity Distichiasis-lymphedema syndrome, Inborn genetic diseases
RS1386128925 TBCD Health Risk Pathogenic —
RS138613460 NMNAT1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 9
RS138615064 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS138615105 TRAP1 Health Risk Conflicting classifications of pathogenicity TRAP1-related disorder, TRAP1-related disorder
RS1386151123 SPG21 Health Risk Likely pathogenic Mast syndrome, Mast syndrome
RS138615339 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Inborn genetic diseases
RS138616955 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS138617006 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS138617219 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1386173214 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS138617654 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS138617736 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS138617999 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS138619320 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS138620818 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS138620990 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS138621008 KIF14 Health Risk Conflicting classifications of pathogenicity Microcephaly 20, primary
RS1386210293 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS138621371 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS138621982 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS1386238241 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS138624658 RET Health Risk Conflicting classifications of pathogenicity Aganglionic megacolon, Multiple endocrine neoplasia
RS138625189 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS1386256334 RS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS138626345 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS138626975 TOP3A Health Risk Conflicting classifications of pathogenicity TOP3A-related disorder, TOP3A-related disorder
RS138627775 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS138629093 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS138629441 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS138629923 MID1 Health Risk Conflicting classifications of pathogenicity —
RS1386302689 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS138630766 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS138630815 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS138630905 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1386314249 MIB1 Health Risk Conflicting classifications of pathogenicity —
RS138631461 CLDN14 Health Risk association Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS138631688 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1386317763 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS138631909 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1386320504 MSH4 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Spermatogenic failure 2
RS138632121 THOC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS138632224 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1386324073 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS138632491 MAP3K4 Health Risk Conflicting classifications of pathogenicity —
RS1386325793 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1386325913 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1386328721 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1386334644 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS138634146 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1386343205 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1386345719 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1386357224 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS1386358302 ROR2 Health Risk Pathogenic —
RS1386361223 POLE Health Risk Pathogenic —
RS138636653 BLVRA Health Risk Conflicting classifications of pathogenicity —
RS1386368908 ARMC5 Health Risk Pathogenic ARMC5-related disorder, ACTH-independent macronodular adrenal hyperplasia 2
RS1386369933 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1386374799 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS138638103 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Inborn genetic diseases
RS1386383075 SETBP1 Health Risk Conflicting classifications of pathogenicity SETBP1-related disorder, SETBP1-related disorder
RS138638329 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1386384373 EMC1 Health Risk Pathogenic —
RS138639220 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orofaciodigital syndrome type 6
RS138639741 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS138640017 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS138640615 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS138640647 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS1386408458 LARP7 Health Risk Pathogenic —
RS138641544 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS138642224 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS1386425283 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1386425657 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS138642693 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1386427036 PROM1 Health Risk Pathogenic —
RS138642840 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, POMGNT1-related disorder
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