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
RS149581248 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS149582526 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS149582940 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS149584080 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS149584596 LEMD2 Health Risk Conflicting classifications of pathogenicity —
RS149584733 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS149585060 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS149585280 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS149585781 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
RS149587738 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS149587849 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS149588350 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS149588992 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS149589493 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS149589666 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases
RS149592537 SLC38A8 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS149593061 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Inborn genetic diseases
RS149593773 GDF5 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 2B, Grebe syndrome
RS149594498 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS149595403 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS149595475 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS149595527 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS149595793 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS149596493 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS149596661 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS149596894 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TOP3A-related disorder
RS149598144 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS149598381 DARS2 Health Risk Conflicting classifications of pathogenicity DARS2-related disorder, Inborn genetic diseases
RS149599324 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS149599496 FGB Health Risk Conflicting classifications of pathogenicity Familial dysfibrinogenemia, Congenital afibrinogenemia
RS149600158 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS149600313 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS149600380 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS149600652 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149601594 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 54
RS149602485 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS149602835 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS149603030 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS149603480 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS149603823 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS149603998 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS149604630 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS149605021 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, AFG3L2-related disorder
RS149605054 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS149605576 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS149605979 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS149606167 DNA2 Health Risk Conflicting classifications of pathogenicity DNA2-related disorder, Inborn genetic diseases
RS149606212 GUSB Health Risk Conflicting classifications of pathogenicity; other Mucopolysaccharidosis type 7, Intellectual disability
RS149606244 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS149607031 HSD17B3 Health Risk Pathogenic Pseudohermaphroditism, Inborn genetic diseases
RS149607882 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder
RS149608942 GATAD2B Health Risk Conflicting classifications of pathogenicity GATAD2B-related disorder, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS149609214 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS149609367 CCN6 Health Risk Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia, Inborn genetic diseases
RS149609746 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149610399 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS149610510 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS149610799 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149611106 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS149612790 GALNT3 Health Risk Conflicting classifications of pathogenicity —
RS149613347 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS149614492 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS149614625 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS149614720 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS149615470 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Inborn genetic diseases
RS149616140 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS149616199 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS149616320 SNRNP200 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS149617331 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
RS149617956 MITF Health Risk Pathogenic Melanoma, cutaneous malignant
RS149620809 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, YARS1-related disorder
RS149621019 TCF12 Health Risk Conflicting classifications of pathogenicity —
RS149622425 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS149622783 TREM2 Health Risk Conflicting classifications of pathogenicity TREM2-related disorder, TREM2-related disorder
RS149623054 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS149623434 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SELENON-related disorder
RS149623442 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS149625278 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, ITCH-related disorder
RS149625993 TXNDC15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149626892 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases
RS149627415 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS149627512 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149628160 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS149628174 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS149628772 DLC1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS149629209 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS149629686 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS149631064 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS149632545 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149637884 LRRC51;LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder
RS149638325 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylocarpotarsal synostosis syndrome
RS149638449 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS149640638 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS149641207 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS149641783 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS149642039 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa
RS149642284 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS149642543 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS149643123 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149643762 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
« Prev 1 ... 725 726 727 728 729 730 731 ... 4509 Next »

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

Get Started Free →