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
RS769657047 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS769657401 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS769657523 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS769658318 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS769659202 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS769660597 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS769661583 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS769661892 LRMDA Health Risk Likely pathogenic —
RS769662049 USH2A Health Risk Conflicting classifications of pathogenicity —
RS769663483 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS769664228 SLC4A1 Health Risk Pathogenic/Likely pathogenic Southeast Asian ovalocytosis, Malaria
RS769664554 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769664625 DEAF1 Health Risk Conflicting classifications of pathogenicity DEAF1-related disorder, DEAF1-related disorder
RS769665204 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS769665538 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS769666008 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS769666581 NDUFS6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS769666695 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Pendred syndrome
RS769667244 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS769668643 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS769668717 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769668980 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS769669104 PLD1 Health Risk Pathogenic Cardiac valvular defect, developmental
RS769669172 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS769669958 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS769671323 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 40
RS769672308 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS769672368 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS769672677 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS769673154 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS769673346 COL13A1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS769673594 CFAP44 Health Risk Pathogenic —
RS769674316 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS769674978 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS769676029 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS769676286 CDON Health Risk Pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS769676607 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS769677171 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769677208 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769677259 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS769677341 NR4A2 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS769677676 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS769677823 HERC1 Health Risk Pathogenic Macrocephaly, dysmorphic facies
RS769677999 FLG Health Risk Pathogenic —
RS769679774 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Stickler syndrome
RS769679860 CDAN1 Health Risk Pathogenic —
RS769680080 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS769680927 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS769681955 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS769682551 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS769682713 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS769682840 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS769683236 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS769683272 ASAH1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS769683665 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS769683740 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS769684089 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS769684226 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS769684495 DNM1L Health Risk Likely pathogenic Optic atrophy 5, Encephalopathy
RS769684812 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS769685858 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS769686385 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS769687104 ABCA4 Health Risk Likely pathogenic —
RS769687764 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS769688229 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS769688327 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS769688376 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS769688710 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS769689633 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS769690517 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS769691189 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769691641 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS769691754 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769691894 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS769693190 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS769693988 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS769694008 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS769694211 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS769694344 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS769695221 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769696527 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS769696601 IFT74 Health Risk Pathogenic —
RS769696803 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769697401 PDE6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769697511 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS769697612 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769697782 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS769697802 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Adrenocortical carcinoma
RS769698255 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769698652 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS769699131 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS769699571 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS769700101 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS769700380 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS769701646 CLN6 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Neuronal ceroid lipofuscinosis
RS769701819 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS769703001 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS769704279 ACAD9 Health Risk Likely pathogenic —
RS769704822 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769704991 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
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