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
RS373495082 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS373495185 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS373496180 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373496854 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373497612 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS373498192 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS373498932 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS373500080 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373501414 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS373501480 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Branchiootic syndrome 1
RS373501601 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS373503739 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS373504037 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS373504201 TSPEAR Health Risk Likely pathogenic —
RS373506089 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS373506145 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373508919 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373509153 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373509972 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS373510512 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS373510719 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS373510969 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS373511249 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS373511343 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373511900 C3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atypical hemolytic-uremic syndrome
RS373512059 DHX30 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
RS373512514 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373513189 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS3735134 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS373514009 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG5-related disorder
RS373514077 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS373514079 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
RS373515515 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS373515634 ETV4 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS373515668 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS373515859 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS373516096 CLDN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373516568 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS373517016 PHKA1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency
RS373517601 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS373517774 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS373517956 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS373519125 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS373519519 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Retinitis pigmentosa 14
RS373519615 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS373519764 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS373520277 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS373520509 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS373520843 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS373521245 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS373522289 HPS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373522639 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS373522800 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS373523691 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS373524969 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, X-linked severe congenital neutropenia
RS373525085 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS373525781 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS373526624 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS373527448 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373527654 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373527910 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373528069 IARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373528664 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS373529106 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS373529426 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS373529765 CALM3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome 16
RS373530008 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS373530345 ADAMTS13 Health Risk Conflicting classifications of pathogenicity ADAMTS13-related disorder, Upshaw-Schulman syndrome
RS373530549 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
RS373530641 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS373532001 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS373532064 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373532334 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS373533040 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373534537 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS373534546 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS3735354 TBXAS1 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS373535692 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS373536239 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373536906 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373536938 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS373537826 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS373539744 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS373540097 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2A
RS373540400 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS373540931 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373541883 LOXHD1 Health Risk Pathogenic —
RS373541993 ITGB4 Health Risk Likely pathogenic —
RS373542052 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS373542143 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS373542380 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS373545111 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS373545812 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS373546450 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS373547836 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS373549904 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS373550111 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373550190 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373550219 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS373550987 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
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