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
RS1395922945 DSPP Health Risk Pathogenic/Likely pathogenic Deafness, autosomal dominant 39
RS139593613 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139593707 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1395940101 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139594532 C12orf57;RNU7-1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 9, Aicardi-Goutieres syndrome 9
RS139595011 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS139595158 COG2 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IIq
RS1395953286 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS139596037 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS139596061 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1395962146 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS1395966308 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS139596860 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1
RS139597295 ABL1 Health Risk Conflicting classifications of pathogenicity Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS139598219 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1395982289 OTUD6B Health Risk Likely pathogenic —
RS139598272 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS139598980 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1395990892 ABCC8 Health Risk Pathogenic —
RS1395993186 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS139599466 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS139599587 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS139599654 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS139600654 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139600659 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS139600847 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Exstrophy-epispadias complex
RS1396008534 DNM1L Health Risk Pathogenic —
RS1396012729 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1396036517 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS139603739 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139605410 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1396054344 POLR3A Health Risk Pathogenic —
RS139605474 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1396066255 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS139606653 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS139606810 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS139606873 CCNO Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 29
RS139607138 UMOD Health Risk Conflicting classifications of pathogenicity UMOD-related disorder, UMOD-related disorder
RS139607465 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS139607673 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome, Crigler-Najjar syndrome
RS139607688 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS139608070 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1396081975 LMX1A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS1396093690 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS139610204 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1396104394 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS139610577 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS139610730 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS139611589 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1396120018 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1396124456 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS1396150639 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1396150679 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS139616052 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS139616809 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS1396168176 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS139616911 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1396171148 FARSB Health Risk Pathogenic Cirrhosis of liver, Cerebral calcification
RS139617644 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS139617694 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1396179636 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS139618756 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS139618850 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1396189205 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS139619013 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS1396196056 CEBPE Health Risk Pathogenic/Likely pathogenic Specific granule deficiency, Specific granule deficiency
RS139619724 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS139620052 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS139620139 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS139620148 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Intellectual disability and myopathy syndrome
RS139620380 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS139620474 MMP9 Health Risk Likely pathogenic Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS139620961 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS139621265 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS139622189 NHERF1 Health Risk Conflicting classifications of pathogenicity —
RS139622306 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS1396225514 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS139622861 SPTBN1 Health Risk Conflicting classifications of pathogenicity Developmental delay, impaired speech
RS139623406 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS139624145 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS139624629 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS139624657 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1396249069 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS139625105 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS139626312 PNPLA8 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-lactic acidosis-deafness syndrome, PNPLA8-related disorder
RS139626522 UPK3A Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS1396269749 DNAAF1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1396273375 C5 Health Risk Conflicting classifications of pathogenicity —
RS139628387 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS139628442 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder
RS1396286715 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B
RS1396292043 DNAJC21 Health Risk Pathogenic —
RS139629564 DNAJC21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAJC21-related disorder
RS139629694 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS1396302901 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139631202 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS1396313317 CNTNAP2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1396314595 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS139632595 EXOSC9 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 1D
RS139633388 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Hypoceruloplasminemia
« Prev 1 ... 480 481 482 483 484 485 486 ... 4509 Next »

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

Get Started Free →