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
RS547724686 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS547726489 MFSD8 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy
RS547729937 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS547740249 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS547745521 MRAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547751652 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547758286 GPNMB Health Risk Likely pathogenic Amyloidosis, primary localized cutaneous
RS547759856 GPC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547770783 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS547775333 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS547785696 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Inborn genetic diseases
RS547787086 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS547792505 GDAP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 27
RS547793908 PEX1 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 1, Heimler syndrome 1
RS547796370 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS547805462 TEK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547812313 CDHR1 Health Risk Pathogenic —
RS547813363 NOVA2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS547813684 GABBR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epileptic encephalopathy
RS547814062 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS547818652 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy
RS547829353 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS547829995 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS547832653 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Inborn genetic diseases
RS547834086 SLC1A3 Health Risk Conflicting classifications of pathogenicity —
RS547842677 DRD4 Health Risk Conflicting classifications of pathogenicity Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
RS547852316 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS547853968 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS547860186 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS547860537 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS547877619 GLI1 Health Risk Conflicting classifications of pathogenicity Polydactyly, postaxial
RS547881286 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS547886773 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS547889326 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS547907440 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
RS547907467 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS547913025 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS547918064 ALDH1A3 Health Risk Likely pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS547919069 PRKCSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547919101 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS547924178 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS547932593 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Hyperinsulinemic hypoglycemia
RS547940069 DNMT3B Health Risk Pathogenic/Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS547944681 LMAN1 Health Risk Conflicting classifications of pathogenicity Factor V and factor VIII, combined deficiency of
RS547951371 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS547956753 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS547958010 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS547968657 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS547979470 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS547984666 FANCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS547986777 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS547987180 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS547990270 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS548000491 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS548002938 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS548013860 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS548015673 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS548018044 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548019779 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS548020208 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS548028803 ANAPC1 Health Risk Conflicting classifications of pathogenicity Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
RS548032105 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS548033657 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548033666 HPS1 Health Risk Conflicting classifications of pathogenicity HPS1-related disorder, Inborn genetic diseases
RS548056312 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS548063424 RASA2 Health Risk Conflicting classifications of pathogenicity RASA2-related disorder, RASA2-related disorder
RS548065551 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS548074036 CHD7 Health Risk Pathogenic —
RS548076633 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS548077620 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS548083258 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS548097951 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS548098742 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Gallbladder disease 4
RS548104305 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548105094 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548111162 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS548115101 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS548118355 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548123125 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS548140963 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS548145029 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS548172627 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS548176472 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS548177107 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS548177540 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Episodic ataxia type 5
RS548190846 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS548191894 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS548199973 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS548204329 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS548208942 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS548213797 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS548217466 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS548223512 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS548223568 SLC34A1 Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2
RS548231700 MED17 Health Risk Conflicting classifications of pathogenicity Microcephaly, MED17-related disorder
RS548232056 LRP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS548234328 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Episodic ataxia type 5
RS548244588 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS548245892 STAT4 Health Risk Conflicting classifications of pathogenicity —
RS548261851 TNNI3K Health Risk Conflicting classifications of pathogenicity Atrial conduction disease, Atrial conduction disease
« Prev 1 ... 2917 2918 2919 2920 2921 2922 2923 ... 4509 Next »

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

Get Started Free →