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
RS754338217 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS754338522 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS754341326 COL7A1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS754341393 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS754341838 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS754342536 THBD Health Risk Conflicting classifications of pathogenicity Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS754342872 VIPAS39 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754343113 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS754343186 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754343223 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754343759 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 6
RS754345067 EIF2AK3 Health Risk Pathogenic —
RS754346307 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS754346893 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS754347572 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS75434768 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS754348627 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS754348681 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS754348901 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS754349088 PYCR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS754349366 PYCR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754349925 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754350357 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS754350384 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS754350576 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754351705 VPS16 Health Risk Conflicting classifications of pathogenicity Dystonia 30, Dystonia 30
RS754351718 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS754352569 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS754353693 CERKL Health Risk Pathogenic —
RS754354190 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS754354210 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS754354488 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS754354560 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS754355185 ZNF143 Health Risk Conflicting classifications of pathogenicity —
RS754355745 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS754356257 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS754357121 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS754357906 USP9X Health Risk Conflicting classifications of pathogenicity Developmental delay, Developmental delay
RS754358467 ABCA12 Health Risk Pathogenic —
RS754358716 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754358942 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypersulfaturia
RS754359147 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS754359356 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS754360853 FLNB Health Risk Conflicting classifications of pathogenicity —
RS754361205 LAMA1 Health Risk Pathogenic —
RS754363068 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS754363694 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS754364233 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS754364718 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS754364756 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754365572 POU4F1 Health Risk Conflicting classifications of pathogenicity POU4F1-related disorder, POU4F1-related disorder
RS754365623 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, CD36-related disorder
RS754366579 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS754367349 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS754368658 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS754368714 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS754369323 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS754369875 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS754369980 SETD1A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS754370015 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS754370463 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS754370770 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS754371531 UNC80 Health Risk Pathogenic —
RS754371834 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS754372754 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS754373136 ACTN2 Health Risk Conflicting classifications of pathogenicity Myopathy, congenital
RS754373273 SEPSECS Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS754373473 WFS1 Health Risk Likely pathogenic —
RS754373519 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS754374132 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS754374362 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS754374567 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS754375124 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS754378340 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS754378464 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS754378887 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS754379238 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS754379411 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Inborn genetic diseases
RS754379518 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS754379725 THOC6 Health Risk Likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS754380009 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, CACNB4-related disorder
RS754380060 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS754381972 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS754383840 FOXRED1 Health Risk Pathogenic —
RS754383898 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS754384143 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754384963 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS754385182 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754385274 ARMC9 Health Risk Pathogenic Joubert syndrome 30, Joubert syndrome 30
RS754385929 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS754386072 CREBBP Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations
RS754386565 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form
RS754386652 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS754387675 PDE10A Health Risk Conflicting classifications of pathogenicity PDE10A-related disorder, PDE10A-related disorder
RS754388460 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS754388534 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS754389345 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754389465 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS754390284 RBBP8 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS754390440 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Inborn genetic diseases
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