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
RS180693049 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS180694107 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS180695545 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS180696183 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS1806987019 TYRP1 Health Risk Pathogenic —
RS1807027560 MPIG6B Health Risk Likely pathogenic Thrombocytopenia, anemia
RS1807078259 MPIG6B Health Risk Likely pathogenic Thrombocytopenia, anemia
RS180711819 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS180718181 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS180719406 FLI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS180719577 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS180721913 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS180724802 FOXH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Holoprosencephaly sequence
RS180727534 SYNE1 Health Risk Conflicting classifications of pathogenicity Distal myopathy, Intellectual disability
RS180727920 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1807291595 CA8 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS180729424 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS180729981 HPS4 Health Risk Conflicting classifications of pathogenicity —
RS180730324 NDUFAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1807328375 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1807328785 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1807331250 TUSC3 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS180742904 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS1807467 PRODH Health Risk Conflicting classifications of pathogenicity Schizophrenia 4, Proline dehydrogenase deficiency
RS180746700 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS180747605 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS180748688 OTOF Health Risk Conflicting classifications of pathogenicity Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS180753337 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS180755563 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Conflicting classifications of pathogenicity Osteodysplastic primordial dwarfism, type 1
RS180759568 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS180760483 RARS1 Health Risk Conflicting classifications of pathogenicity —
RS1807619777 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS180765536 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS180765750 GATA4 Health Risk Pathogenic/Likely pathogenic Atrial septal defect 2, Atrioventricular septal defect 4
RS180767588 ECEL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ECEL1-related disorder
RS180768115 FLG Health Risk Pathogenic Ichthyosis vulgaris, Inborn genetic diseases
RS180768962 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1807706006 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS180775012 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS180775924 PRPH2 Health Risk Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy, Patterned macular dystrophy 1
RS180779260 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS180780893 PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, Foveal hypoplasia 1
RS180784366 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1807849706 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1807855713 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS180790607 HCN1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 10
RS1807936303 ABCB4 Health Risk Pathogenic —
RS1807938184 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS180798231 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS180800246 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1808061980 FLNC Health Risk Likely pathogenic —
RS180806437 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS180808563 CTSF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS180810228 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS180812156 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
RS1808142277 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808146842 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS180814740 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS1808150555 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1808153476 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS180816849 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS180819807 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS1808207788 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS180821737 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS180828370 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS180830030 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1808301220 JPH1 Health Risk Likely pathogenic Congenital myopathy 25, Congenital myopathy
RS1808318504 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1808320936 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS180832133 ITM2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS180832203 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1808334682 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808336992 FLNC Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 5
RS180837208 C12orf57;RNU7-1 Health Risk Likely pathogenic Spasticity, Aicardi-Goutieres syndrome 9
RS1808400111 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1808400430 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808416556 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808418675 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1808421350 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1808425655 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS180843163 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS180843436 ANK2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia 1
RS1808445116 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS180844972 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS1808457346 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808458303 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1808464696 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1808471410 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS180847164 SLC12A1 Health Risk Pathogenic —
RS1808489575 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS180849030 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS1808505973 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808506924 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1808508148 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1808524694 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1808543772 SYNCRIP Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1808546796 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1808550611 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1808555459 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1808557594 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
« Prev 1 ... 1251 1252 1253 1254 1255 1256 1257 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →