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
RS370133905 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS370134870 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS370134885 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS370134977 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS370135374 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS370135619 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS370135715 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS370135765 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder
RS370137092 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS370137295 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370138167 TMEM165 Health Risk Conflicting classifications of pathogenicity TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS370138936 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS370139854 MTOR Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS370140172 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS370140840 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370141420 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS370141550 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS370141697 PDLIM3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS370141803 SCN8A Health Risk Conflicting classifications of pathogenicity See cases, Early-infantile DEE
RS370141970 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS370142490 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS370143116 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS370143255 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS370143312 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS370144264 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS370144967 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS370145822 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS370146152 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370146203 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370146676 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS370146822 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS370148354 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS370148688 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS370149278 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS370150142 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS370150532 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, NARS2-related disorder
RS370150883 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS370152402 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS370153092 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS370153686 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS370154022 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS370154845 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS370154986 F10 Health Risk Conflicting classifications of pathogenicity Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS370155138 COL6A2 Health Risk Conflicting classifications of pathogenicity —
RS370155559 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS370155635 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS370156011 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 30, Retinitis pigmentosa 30
RS370157832 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370157946 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS370158184 NPR2 Health Risk Likely pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1
RS370158816 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS370158884 CSPG4 Health Risk Conflicting classifications of pathogenicity —
RS370159889 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS370160676 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS370160823 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS370160870 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Intellectual disability
RS370161556 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS370161725 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS370162493 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS370162508 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS370162922 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS370164300 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS370165461 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS370165815 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS370166358 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS370167148 HOXB13 Health Risk Conflicting classifications of pathogenicity —
RS370167241 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, See cases
RS370167302 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS370168097 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS370169775 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS370169777 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS370169829 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS370171270 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS370171367 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS370171967 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS370172690 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS370173546 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370173652 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS370173809 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS370174601 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity —
RS370175393 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS370175724 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS370175770 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS370176106 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS370176253 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS370176704 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS370176892 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS370178425 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS370178817 WHRN Health Risk Conflicting classifications of pathogenicity —
RS370179235 LMF1 Health Risk Conflicting classifications of pathogenicity LMF1-related disorder, Cardiovascular phenotype
RS370179236 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome 1
RS370179526 KRT12 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Meesmann
RS370179608 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS370180297 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS370181275 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS370181298 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS370181941 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Rare genetic intellectual disability
RS370181947 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS370182416 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS370183490 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Cone-rod dystrophy 12
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