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
RS368151265 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS368151971 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368152307 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS368152533 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS368153032 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS368153383 KLC3 Health Risk Conflicting classifications of pathogenicity —
RS368153798 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS368154623 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368155350 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368155422 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS368155479 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS368155547 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS368157059 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS368157256 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS368157416 TAPT1 Health Risk Conflicting classifications of pathogenicity —
RS368157719 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS368158143 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS368158276 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS368159852 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS368160013 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS368160678 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS368160954 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS368161217 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368161263 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS368161466 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS368161489 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS368162343 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS368162935 MED13 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 61, Inborn genetic diseases
RS368163419 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS368164133 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Renal cyst
RS368164231 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS368164391 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368166217 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS368166273 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS368166434 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS368167189 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS368167203 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS368167684 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS368170044 SLC26A8 Health Risk Conflicting classifications of pathogenicity —
RS368171012 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS368171530 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS368173900 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368174761 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS368175234 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS368178411 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS368178461 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368178771 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS368179478 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368180456 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368181053 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS368181126 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS368182892 COQ8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 9
RS368183370 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS368183690 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS368186423 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS368187218 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS368187472 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS368187806 UQCC2 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7
RS368187891 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368188049 DVL1 Health Risk Conflicting classifications of pathogenicity —
RS368189158 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS368190250 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS368190437 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS368191279 ERCC3 Health Risk Pathogenic —
RS368192144 GPAA1 Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS368192956 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 46
RS368193049 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS368193211 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS368193742 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Disorders of Intracellular Cobalamin Metabolism
RS368194255 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS368196005 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS368196317 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS368197143 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS368198391 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS368198591 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS368198698 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS368198835 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS368199588 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS368200299 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS368200536 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS368200572 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS368201364 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS368201693 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS368201717 STIL Health Risk Conflicting classifications of pathogenicity —
RS368202285 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS368202669 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS368203745 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS368204073 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS368204647 DNAJC12 Health Risk Conflicting classifications of pathogenicity DNAJC12-related disorder, Inborn genetic diseases
RS368206682 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368206951 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS368207076 SLC27A4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS368207474 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS368208495 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS368209025 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS368209124 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS368209176 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS368209468 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS368209619 CFHR5 Health Risk Conflicting classifications of pathogenicity CFHR5 deficiency, CFHR5 deficiency
RS368210930 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
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