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
RS746939887 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS746941221 CARNS1 Health Risk Conflicting classifications of pathogenicity —
RS746943281 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS746943696 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS746943889 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS746944448 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS746945124 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS746945284 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS746947861 TBX22 Health Risk Conflicting classifications of pathogenicity Cleft palate with or without ankyloglossia, X-linked
RS74694805 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS746949078 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS746949187 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746949236 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS746949976 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS746950373 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS746951044 CRELD1 Health Risk Pathogenic Congenital heart defects, multiple types
RS746952369 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS746952638 TPM1 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS746953076 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual disability, FBXO11-related disorder
RS746953590 FDXR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome
RS746953932 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS746954414 SCN3B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 7, Cardiovascular phenotype
RS746954557 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS746954804 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS746956869 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS746956979 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS746959386 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS746960051 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS746960200 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS746960789 ANO6 Health Risk Likely pathogenic ANO6-related disorder, ANO6-related disorder
RS746961162 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS746961427 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS746962599 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746964903 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS746966614 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS746967357 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS746967490 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS746967719 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS746969842 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS746970206 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS746970260 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS746970647 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746971522 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS746971794 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS746971952 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS746972142 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS746972322 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746972457 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS746972765 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS746972930 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS746973259 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS746973761 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS746973873 CYP11B2 Health Risk Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS746975723 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS746976599 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS746977730 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS746978083 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS746978701 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS746979262 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 5A
RS746979388 ANO10 Health Risk Pathogenic —
RS746979958 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS746980493 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Acromesomelic dysplasia 2B
RS746980680 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS746981200 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS746981338 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS746982385 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Sensorineural hearing loss disorder, Renal tubulopathies
RS746982506 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS746982741 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS746983128 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS74698331 MADD Health Risk Conflicting classifications of pathogenicity —
RS746985605 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS746985755 SORD Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS746986151 CCIN Health Risk Pathogenic Spermatogenic failure 91, Spermatogenic failure 91
RS746986165 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS746987085 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS746987799 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS746987839 CFAP52 Health Risk Likely pathogenic Situs inversus, Situs inversus
RS746988006 HBA2 Health Risk Pathogenic —
RS746988876 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS746989288 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS746990436 CSRP3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 12
RS746990528 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS746991079 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS746991573 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS74699271 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS746993675 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS746994234 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS746994330 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746994660 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS746994734 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS746997654 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS746999375 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS746999951 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS746999970 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS747000305 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747000470 NKX2-1 Health Risk Pathogenic —
RS747000483 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS747001128 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS747002272 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS747002312 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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