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
RS144123179 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS144123257 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS1441249554 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS144125742 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS144125797 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, Sarcoma
RS1441260635 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS144126512 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS144126859 SH2B1 Health Risk Conflicting classifications of pathogenicity —
RS144126969 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144127332 GCKR Health Risk Conflicting classifications of pathogenicity —
RS144127577 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
RS1441276119 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS144128064 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS144128250 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS144128773 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144129296 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYLK2-related disorder
RS144129557 CYP4V2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1441298926 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS144130537 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1441316018 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS144131616 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS144131869 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS144131971 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS1441327018 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS144132787 SCP2 Health Risk Likely pathogenic Sterol carrier protein 2 deficiency, SCP2-related disorder
RS144133177 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Pierson syndrome
RS144133542 CLHC1 Health Risk Likely pathogenic Marked Hypotonia, Waddling gait
RS144133667 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1441350225 USH2A Health Risk Pathogenic —
RS144135510 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1441358067 LTBP1 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS1441359398 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS144136807 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1441370371 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS144137849 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Hemorrhage
RS144138616 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS144138766 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1441390681 CD46 Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Nonpapillary renal cell carcinoma
RS1441391864 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS144139211 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79
RS144139747 NADSYN1 Health Risk Pathogenic/Likely pathogenic Vertebral, cardiac
RS144140192 ACTN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144140226 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS144140265 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS144140791 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS1441411760 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS144141837 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1441428144 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS144143245 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS144143344 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS144143366 SGCG Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1441434215 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144143780 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS144143802 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144144643 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS1441446862 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1441448091 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1441454058 BAG3 Health Risk Likely pathogenic —
RS144146254 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
RS144147038 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS144147463 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1441475659 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS144147641 BICC1 Health Risk Conflicting classifications of pathogenicity BICC1-related disorder, BICC1-related disorder
RS144147839 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS144148008 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS1441486160 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS144148976 RDH12 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS144149165 DHCR24 Health Risk Conflicting classifications of pathogenicity —
RS144149294 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Inborn genetic diseases
RS144149425 TEX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1441504335 CPAP Health Risk Pathogenic —
RS144150588 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS144150940 SLC26A5 Health Risk Conflicting classifications of pathogenicity —
RS1441509615 PGAP1 Health Risk Likely pathogenic —
RS144151494 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS144151561 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Jeune thoracic dystrophy
RS144152355 SRP54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1441534206 RRM2B Health Risk Conflicting classifications of pathogenicity —
RS144153950 DUOX2 Health Risk Conflicting classifications of pathogenicity DUOX2-related disorder, DUOX2-related disorder
RS144154512 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS144155311 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144155507 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS144156217 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144157275 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS144158112 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS144158201 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1441582052 CAPN15 Health Risk Conflicting classifications of pathogenicity CAPN15-related disorder, Oculogastrointestinal-neurodevelopmental syndrome
RS144158469 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Medulloblastoma
RS144158792 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Papillary renal cell carcinoma type 1
RS144158934 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1441591017 PDE6C Health Risk Pathogenic —
RS144159801 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS144159890 LEPR Health Risk Pathogenic/Likely pathogenic LEPR-related disorder, Obesity due to leptin receptor gene deficiency
RS144159915 ATP5F1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1441620017 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS144162964 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS144163010 SP110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS144163298 NOTCH3 Health Risk Conflicting classifications of pathogenicity Vascular dementia, Inborn genetic diseases
RS144164119 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS144164397 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
« Prev 1 ... 592 593 594 595 596 597 598 ... 4509 Next »

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

Get Started Free →