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
RS116142981 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, FKBP10-related disorder
RS1161436837 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1161451203 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1161453292 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS1161458067 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS1161473997 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS116147541 MYO16 Health Risk Conflicting classifications of pathogenicity —
RS1161477501 CYB5R3 Health Risk Likely pathogenic Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS1161478770 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS116148064 PDSS1 Health Risk Conflicting classifications of pathogenicity —
RS116148295 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS116148705 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1161487989 COL4A4 Health Risk Likely pathogenic —
RS1161495077 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1161498711 STAG3 Health Risk Likely pathogenic Spermatogenesis maturation arrest, Non-obstructive azoospermia
RS1161512784 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1161525517 SKIC3 Health Risk Pathogenic —
RS1161530285 ABCC2 Health Risk Pathogenic —
RS116153163 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1161535903 POGLUT1 Health Risk Pathogenic —
RS1161550353 ABCA12 Health Risk Pathogenic —
RS1161552095 GBA1 Health Risk Likely pathogenic GBA1-related disorder, GBA1-related disorder
RS1161553940 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1161562868 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1161576814 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS116158771 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1161589003 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1161604514 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1161610345 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS116162724 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS1161636527 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, INPP5E-related disorder
RS116164106 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1161647781 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS1161652737 USH2A Health Risk Likely pathogenic Ear malformation, Ear malformation
RS1161689441 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1161693014 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS116171274 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS1161720919 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1161735211 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1161738395 LMX1B Health Risk Likely pathogenic —
RS116174472 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Nephronophthisis
RS1161756211 QRICH2 Health Risk Likely pathogenic QRICH2-related disorder, QRICH2-related disorder
RS1161768105 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1161787867 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1161799599 COL4A3 Health Risk Pathogenic —
RS116180923 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS116181849 FAM20C Health Risk Conflicting classifications of pathogenicity Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS1161843319 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1161850370 INPPL1 Health Risk Likely pathogenic —
RS1161862851 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1161880335 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1161907698 FOCAD Health Risk Pathogenic Liver disease, severe congenital
RS1161918267 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS116192442 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1161929108 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS116193143 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS1161932777 MRPS34 Health Risk Pathogenic Leigh syndrome, Combined oxidative phosphorylation deficiency 32
RS1161951509 MYO15A Health Risk Likely pathogenic —
RS1161972119 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS116197349 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS116198081 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS1161995349 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1162015461 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116201949 MBD1 Health Risk Conflicting classifications of pathogenicity —
RS1162037663 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS116204385 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
RS116204707 ARPC1B Health Risk Pathogenic —
RS1162048721 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS1162054356 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS116207524 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS116211118 CD151 Health Risk Conflicting classifications of pathogenicity —
RS116214586 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS116214830 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Primary dilated cardiomyopathy
RS116215208 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS1162164452 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116216460 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS1162166308 ADGRV1 Health Risk Pathogenic —
RS116218572 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1162193591 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS116219738 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1162214541 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal recessive ABCA4-related disorders
RS1162224576 MECR Health Risk Pathogenic —
RS1162236403 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS116225248 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS116228809 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS116229331 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1162296750 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS116229809 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS11623 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1162305984 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1162306056 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Seizures
RS1162309498 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1162316051 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS116232047 TLR2 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, Colorectal cancer
RS1162322343 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS116233118 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, UROD-related disorder
RS1162344514 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS116235450 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS1162371435 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS116237993 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
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