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
RS200019229 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200019257 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, See cases
RS200019356 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS200019422 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS200019717 VARS2 Health Risk Conflicting classifications of pathogenicity —
RS200019819 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS200020269 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS200020310 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS200020734 RSPO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200021115 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS200021472 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS200021475 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS200021661 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS200021702 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS200022152 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200022550 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS200022583 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Inborn genetic diseases
RS200022673 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS200022826 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200022855 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200023879 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS200023903 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Autosomal recessive nonsyndromic hearing loss 97
RS200024180 CERS1 Health Risk Pathogenic Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
RS200024502 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS200024753 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS200025478 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS200025505 CPAMD8 Health Risk Pathogenic —
RS200025577 FKRP Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS200026741 CDH15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS200027186 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS200027649 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS200028088 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200028255 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS200028937 BLTP1 Health Risk Conflicting classifications of pathogenicity BLTP1-related disorder, BLTP1-related disorder
RS200029503 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS200029740 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS200029869 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200029938 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS200030109 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS200030296 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS200030367 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS200030766 MN1 Health Risk Conflicting classifications of pathogenicity MN1-related disorder, Inborn genetic diseases
RS200031013 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS200031107 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, SEPTIN9-related disorder
RS200031876 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS200031940 TRPC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS200032281 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS200032740 TUBB1 Health Risk Conflicting classifications of pathogenicity —
RS200032855 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS200032947 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS200033396 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200033458 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS200033507 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS200033729 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS200033849 AP4S1 Health Risk Likely pathogenic Neurodevelopmental disorder, Spastic paraplegia
RS200034130 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200034358 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200034452 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS200034525 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200034567 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS200034820 KIAA1210 Health Risk Conflicting classifications of pathogenicity —
RS200034939 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome 1
RS200034964 SCN1A Health Risk Likely pathogenic —
RS200035175 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS200035225 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS200035262 MVD Health Risk Conflicting classifications of pathogenicity Linear porokeratosis, Porokeratosis 7
RS200035357 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS200035428 MIB1 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 7, MIB1-related disorder
RS200035619 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS200036265 CFP Health Risk Conflicting classifications of pathogenicity Properdin deficiency, X-linked
RS200036864 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS200036888 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS200037070 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS200038092 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS200038418 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS200038539 SLIT2 Health Risk Conflicting classifications of pathogenicity —
RS200038732 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS200039061 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS200039241 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS200039500 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS200039527 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200039720 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS200040003 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS200040161 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS200040205 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200040822 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS200040980 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS200041268 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Inborn genetic diseases
RS200041461 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS200041829 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, Autosomal recessive nonsyndromic hearing loss 3
RS200041852 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200041907 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS200042352 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia
RS200042397 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS200042437 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200042535 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS200042576 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS200042607 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS200042932 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200042949 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
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