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
RS1488217326 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS148821986 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1488232864 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1488236066 REEP6 Health Risk Pathogenic —
RS1488237523 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS148823991 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148824162 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS148824690 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS148825215 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS148826320 MYOCD Health Risk Conflicting classifications of pathogenicity Megabladder, congenital
RS1488268931 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1488271424 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS148827608 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS148828104 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS148828179 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1488305206 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148830698 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS148831568 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, PNPLA6-related disorder
RS148831705 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, DNMT1-related disorder
RS148831709 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS148831941 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1488321830 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148832260 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS1488323868 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1488326228 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS1488329353 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS148833310 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Gastric cancer
RS148833313 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS148833652 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Hereditary spastic paraplegia
RS148833906 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS148834015 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148834205 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1488345176 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1488349870 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS148835259 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS1488354536 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS148835707 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS148836522 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS148836546 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Inborn genetic diseases
RS1488367942 EXT2 Health Risk Likely pathogenic EXT2-related disorder, EXT2-related disorder
RS148837179 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS148837216 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS148838160 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LCT-related disorder
RS148838377 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS148838496 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS148838622 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Inborn genetic diseases
RS148838983 AP1G1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148839273 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS1488399289 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1488399880 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS148841455 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS148842275 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1488441223 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1488443545 RDH5 Health Risk Pathogenic —
RS148844389 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS148845653 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS148845802 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1488458340 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS148846096 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1488461123 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS148846625 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1488467945 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS148846795 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS148848282 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS148848581 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1488489883 SMARCC2 Health Risk Likely pathogenic SMARCC2-related BAFopathy, SMARCC2-related BAFopathy
RS148849547 TOR1A Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS148849567 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1488498065 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS148851013 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS148851201 MYOM2 Health Risk Conflicting classifications of pathogenicity —
RS148851444 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1488516129 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS148852472 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS1488525582 EYS Health Risk Pathogenic —
RS1488526952 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148853297 KDF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148855291 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS148855515 ASMT Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Familial cancer of breast
RS148855956 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiomyopathy
RS148856160 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS148856317 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Sarcoma
RS148856375 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Inborn genetic diseases
RS148858485 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS148860301 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS148860986 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS1488613451 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1488618086 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS148862100 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS148862146 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS1488635637 MKS1 Health Risk Likely pathogenic Polydactyly, Nystagmus
RS148863690 RAB40AL Health Risk Conflicting classifications of pathogenicity —
RS148863748 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1488644936 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS148865119 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS148865252 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS148865574 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1488660868 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS148866170 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS148866521 PIDD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder
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