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
RS1226046110 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1226056948 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS12260663 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1226079110 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1226087945 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1226093664 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1226098656 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy
RS1226108463 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1226110412 SPG11 Health Risk Pathogenic Amyotrophic lateral sclerosis type 5, Amyotrophic lateral sclerosis type 5
RS1226116719 TRMU Health Risk Pathogenic —
RS1226122841 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1226138707 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1226146327 IFNAR2 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS1226153645 ABCC2 Health Risk Pathogenic —
RS1226165772 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1226171550 ILDR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 42, Hearing loss
RS1226171594 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1226175402 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1226177022 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1226187697 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1226192640 HPS6 Health Risk Pathogenic —
RS1226217440 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1226221560 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1226228092 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Multiminicore myopathy
RS1226233875 COL12A1 Health Risk Conflicting classifications of pathogenicity —
RS1226252969 CRBN Health Risk Pathogenic Intellectual disability, autosomal recessive 2
RS1226253305 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1226268646 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1226276974 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS1226290209 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, DMD-related disorder
RS1226320805 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1226321681 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS1226321871 IQCB1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1226324102 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1226324483 CEP290 Health Risk Pathogenic Leber congenital amaurosis 10, Leber congenital amaurosis 10
RS1226333994 ASPM Health Risk Pathogenic —
RS1226340631 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1226344391 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1226345778 MC2R Health Risk Likely pathogenic Glucocorticoid Deficiency, Glucocorticoid Deficiency
RS1226347591 TBCE Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1226348837 COL4A5 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS1226366288 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1226367231 CHEK2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1226386838 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1226393084 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS1226393603 NEK8 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS1226397753 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1226400049 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS1226402321 ERCC6L2 Health Risk Pathogenic Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS1226437991 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1226438110 ASAH1 Health Risk Likely pathogenic —
RS1226441435 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1226462938 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS1226482581 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1226491943 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS1226494061 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Intellectual disability
RS1226499208 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1226502822 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1226504776 KATNIP Health Risk Pathogenic —
RS1226505973 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS1226532313 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1226545466 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1226552673 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1226553506 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1226555490 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS1226564535 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1226569632 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1226603266 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1226608647 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1226609590 EIF2AK4 Health Risk Pathogenic —
RS1226613045 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1226613511 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1226634357 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1226638635 ZEB2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1226646214 IFT140 Health Risk Pathogenic/Likely pathogenic IFT140-related disorder, Polycystic kidney disease
RS1226690028 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1226716539 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1226722287 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1226768858 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1226770904 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1226778440 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1226796744 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS1226800998 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1226821306 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1226835488 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1226848374 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1226851798 USH1G Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1226852302 LIPA Health Risk Pathogenic —
RS1226857910 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1226865525 RB1 Health Risk Pathogenic Malignant tumor of urinary bladder, Retinoblastoma
RS1226870134 COL2A1 Health Risk Pathogenic —
RS1226874636 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1226883651 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS1226885639 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1226923092 MC4R Health Risk Pathogenic/Likely pathogenic Obesity due to melanocortin 4 receptor deficiency, Obesity due to melanocortin 4 receptor deficiency
RS1226940708 F8 Health Risk Pathogenic —
RS1226946837 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1226951327 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1226953182 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1226957030 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
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