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
RS1356451622 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1356455272 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1356498946 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1356501558 VARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1356510559 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1356513635 TRIM8 Health Risk Conflicting classifications of pathogenicity —
RS1356550790 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1356564786 ETV6 Health Risk Conflicting classifications of pathogenicity ETV6-related disorder, Inborn genetic diseases
RS1356571461 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1356587420 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1356596414 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1356604153 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1356619061 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1356626353 C2CD3 Health Risk Pathogenic —
RS1356631664 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS1356633122 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy
RS1356633840 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1356633870 MYO15A Health Risk Pathogenic —
RS1356652354 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1356658811 PYCR1 Health Risk Pathogenic PYCR1-related disorder, PYCR1-related disorder
RS1356674990 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1356679312 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS1356713858 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1356715958 NR2E3 Health Risk Pathogenic —
RS1356719738 RRP7A Health Risk Pathogenic Microcephaly 28, primary
RS1356720044 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1356733529 GNB1 Health Risk Conflicting classifications of pathogenicity Acute lymphoid leukemia, Intellectual disability
RS1356736514 STAG2 Health Risk Conflicting classifications of pathogenicity —
RS1356745875 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1356745912 FLNB Health Risk Conflicting classifications of pathogenicity Larsen syndrome, Larsen syndrome
RS1356750726 SEPSECS Health Risk Likely pathogenic —
RS1356753192 SAG Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1356755641 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Papillary renal cell carcinoma type 1
RS1356791510 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS1356797524 NKX6-2 Health Risk Likely pathogenic —
RS1356806251 PKLR Health Risk Pathogenic/Likely pathogenic —
RS1356845856 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1356859208 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1356871588 CSGALNACT1 Health Risk Pathogenic —
RS1356874783 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1356874913 TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
RS1356874927 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS1356876749 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1356891310 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS1356992077 CNGB1 Health Risk Likely pathogenic —
RS1356994386 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1356997734 NEB Health Risk Pathogenic —
RS1357010510 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1357020990 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1357034003 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS1357052511 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastric cancer
RS1357068280 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS1357160179 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1357160289 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1357170855 AXIN2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1357171752 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1357186643 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS1357189926 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1357217922 C9 Health Risk Pathogenic —
RS1357241537 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1357257156 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS1357268588 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
RS1357291112 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1357325121 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1357326383 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1357330262 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1357375850 OPTN Health Risk Likely pathogenic Primary open angle glaucoma, Glaucoma 1
RS1357402422 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1357409506 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1357427054 PIGB Health Risk Pathogenic —
RS1357428836 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1357490520 SELENBP1 Health Risk Pathogenic Extraoral halitosis due to methanethiol oxidase deficiency, Extraoral halitosis due to methanethiol oxidase deficiency
RS1357495676 CHM Health Risk Pathogenic —
RS1357511665 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS1357513890 DICER1 Health Risk Likely pathogenic —
RS1357542778 EYS Health Risk Pathogenic —
RS1357552630 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1357560938 OBSCN Health Risk Pathogenic —
RS1357591960 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS1357595604 MED17 Health Risk Pathogenic —
RS1357599705 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1357627980 IMPG1 Health Risk Pathogenic —
RS1357628990 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1357632829 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1357639894 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1357662240 COG6 Health Risk Likely pathogenic COG6-related disorder, COG6-related disorder
RS1357690062 BBS12 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome 12
RS1357692627 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1357712610 TYRP1 Health Risk Pathogenic —
RS1357715175 DLL4 Health Risk Likely pathogenic DLL4-related disorder, DLL4-related disorder
RS1357739151 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1357803103 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1357808025 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1357808992 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1357811155 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1357823045 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1357831556 OPA3 Health Risk Likely pathogenic —
RS1357838162 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1357839545 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1357844466 TNNI3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A
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