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
RS778398729 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS778399351 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS778400379 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS778403432 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778403669 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS778403814 COL6A3 Health Risk Conflicting classifications of pathogenicity Dystonia 27, Ullrich congenital muscular dystrophy 1A
RS778404277 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS778404517 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS778404648 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS778405030 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS778406422 SETX Health Risk Conflicting classifications of pathogenicity SETX-related disorder, Amyotrophic lateral sclerosis type 4
RS778407127 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS778407227 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778407564 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS778407882 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778408161 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS778408194 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778409332 NDUFS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778410503 DUOXA2 Health Risk Pathogenic/Likely pathogenic Thyroglobulin synthesis defect, Familial thyroid dyshormonogenesis
RS778412019 COX15 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS778412274 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS778412314 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS778413122 NEK9 Health Risk Pathogenic —
RS778413165 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS778413540 KCNE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 6
RS778413603 EARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS778414080 TANC2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Inborn genetic diseases
RS778414542 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS778415287 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis
RS778415707 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS778416424 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS778417218 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS778418096 SON Health Risk Pathogenic ZTTK syndrome, Inborn genetic diseases
RS778418119 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS778418246 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS778418403 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS778418940 EMC1 Health Risk Conflicting classifications of pathogenicity —
RS778419234 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS778419716 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS778420641 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS778420941 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS778422149 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS778423653 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS778423964 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS778424518 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS778426010 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS778426227 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1D
RS778427434 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS778428363 CREB3L3 Health Risk Conflicting classifications of pathogenicity Hypertriglyceridemia 1, Episodic kinesigenic dyskinesia 1
RS778429780 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, MELAS syndrome
RS778430306 PHGDH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHGDH deficiency
RS778431071 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS778431173 BBS10 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome
RS778434126 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS778434616 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS778434804 BRF1 Health Risk Likely pathogenic BRF1-related disorder, BRF1-related disorder
RS778435515 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS778437210 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS778438052 CAPN1 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS778438685 PRPF8 Health Risk Pathogenic —
RS778438734 CYP27B1 Health Risk Pathogenic —
RS778438857 DRC4 Health Risk Likely pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS778438920 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS778439805 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS778439872 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS778439899 CACNA1B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS778440902 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Inborn genetic diseases
RS778443262 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS778445117 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS778445506 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS778445616 GPT2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS778446376 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778447794 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS778447994 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, USH1C-related disorder
RS778448390 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS778448699 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778449586 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS778450974 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS778451008 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS778451048 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS778452195 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778452896 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS778454003 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778455414 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS778455544 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS778455666 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Fuchs endothelial
RS778456901 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS778457870 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS778457903 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Macular dystrophy with or without extraocular features
RS778458082 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS778458915 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778458961 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS778459455 CDC45 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778460384 PTCH1 Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Gorlin syndrome
RS778460564 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS778464882 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS778466215 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS778466816 CFI Health Risk Pathogenic —
RS778467154 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778467957 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
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