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
RS202210896 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Stickler syndrome type 1
RS202211027 PPP1R1A Health Risk Conflicting classifications of pathogenicity Low-frequency hearing loss, Low-frequency sensorineural hearing impairment
RS202211102 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202211381 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS202211401 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS202211640 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS202211738 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS202211795 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS202212109 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS202212254 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202212358 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202212399 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS202212586 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS202213088 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS202213170 ALAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202213253 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Inborn genetic diseases
RS202213533 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS202213873 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS202214380 MYO6 Health Risk Conflicting classifications of pathogenicity Infertility disorder, Male infertility
RS202214518 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS202215080 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS202215158 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Inborn genetic diseases
RS202215191 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS202215396 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS202215428 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases
RS202215716 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS202215735 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS202215840 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS202216172 CACNA1C Health Risk Conflicting classifications of pathogenicity CACNA1C-related disorder, Cardiovascular phenotype
RS202216257 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS202216404 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS202216835 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS202216852 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS202217053 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS202217062 TMC6 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS202217097 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS202217257 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS202217420 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS202217537 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS202217551 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS202217590 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS202217604 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS202217665 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS202217871 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS202218048 ITPR2 Health Risk Conflicting classifications of pathogenicity ITPR2-related disorder, ITPR2-related disorder
RS202218356 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS202218458 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS202218503 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS202218688 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Inborn genetic diseases
RS202218890 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
RS202218948 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS202219108 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS202219126 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS202219307 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS202219343 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS202219398 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked recessive 4, Combined oxidative phosphorylation deficiency
RS202219507 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS202219643 TEX14 Health Risk Conflicting classifications of pathogenicity —
RS202219685 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS202220072 IKBKG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202220195 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS202220778 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS202220889 CARMIL2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS202221024 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS202221198 SDR9C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202221613 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS202221716 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS202222149 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS202222264 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202223470 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS202223574 TECTA Health Risk Conflicting classifications of pathogenicity —
RS202223616 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS202224167 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS202224350 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS202225012 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS202225018 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS202225055 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS202225176 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS202225187 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS202226005 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Clear cell carcinoma of kidney
RS202226066 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS202226215 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS202226274 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS202226429 MEGF6 Health Risk Conflicting classifications of pathogenicity —
RS202226983 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS202227084 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8
RS202227137 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS202227418 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS202227458 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS202227661 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases
RS202227966 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202228115 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3
RS202228332 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS202228440 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS202228471 WHRN Health Risk Conflicting classifications of pathogenicity —
RS202228478 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS202228562 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202228570 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202228620 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS202228716 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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