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
RS765089897 INTS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765089938 MYLK3 Health Risk Likely pathogenic —
RS765090096 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS765091640 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS765092602 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS765093638 TACO1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 8
RS765093690 ANKRD1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, ANKRD1-related dilated cardiomyopathy
RS765093741 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS765094070 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS765094280 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765094547 PKD1 Health Risk Likely pathogenic —
RS765095794 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS765095992 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS765096739 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Ovarian cancer
RS765096923 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS765097897 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS765098686 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS765098843 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS765099471 RSPH3 Health Risk Likely pathogenic RSPH3-related disorder, RSPH3-related disorder
RS765100922 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS765101399 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS765101409 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS765102730 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS765103086 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS765103846 CCDC47 Health Risk Likely pathogenic Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
RS765104557 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS765104792 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS765105348 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS765106198 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS765106202 MARS2 Health Risk Conflicting classifications of pathogenicity MARS2-related disorder, MARS2-related disorder
RS765106259 TBK1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS765106555 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity —
RS765106604 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS765106818 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS765109519 SLC20A2 Health Risk Pathogenic —
RS765109547 ABCC2 Health Risk Pathogenic —
RS765109765 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS765110067 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS765110115 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS765110211 RDH5 Health Risk Pathogenic —
RS765112107 DONSON Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Microcephaly
RS765113367 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS765114036 B4GAT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS765114227 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS765116524 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS765118029 OPA1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765118465 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS765118809 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS765118884 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS765119568 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS765119880 MYO3A Health Risk Pathogenic —
RS765120199 VMA21 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with excessive autophagy, Inborn genetic diseases
RS765122668 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS765122670 KYNU Health Risk Pathogenic/Likely pathogenic Congenital NAD deficiency disorder, Vertebral
RS765123255 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS765124350 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS765124462 IFT74 Health Risk Pathogenic —
RS765124485 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Basal ganglia calcification
RS765125459 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS765125582 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS765125852 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765125915 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, Retinal arterial tortuosity
RS765126342 LOX Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cardiovascular phenotype
RS765126771 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS765128089 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS765128550 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS765129469 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome
RS765129486 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS765129583 GTPBP3 Health Risk Likely pathogenic —
RS765129639 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS765130674 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS765131350 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS765132163 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS765133601 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS765133670 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS765134063 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS765134641 IQCE Health Risk Conflicting classifications of pathogenicity Polydactyly, postaxial
RS765135576 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter disease type 4A
RS765136135 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765136820 ILDR1 Health Risk Pathogenic/Likely pathogenic —
RS765136839 PCDH12 Health Risk Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS765137033 SERPINF1 Health Risk Likely pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
RS765137338 TBXAS1 Health Risk Conflicting classifications of pathogenicity —
RS765137570 FMO3 Health Risk Likely pathogenic —
RS765138415 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS765139006 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS765139051 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765139243 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS765139446 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS765139835 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS765140794 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765141317 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, OCRL-related disorder
RS765141566 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS765142581 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS765142941 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS765143155 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS765143937 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS765144371 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765144892 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS765145057 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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