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
RS528919874 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS528923373 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS528928041 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS528939343 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS528942664 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS528952923 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS528961889 FLG Health Risk Pathogenic —
RS528966598 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS528979086 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS528982644 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS528985816 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS528989984 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS528990697 MNX1 Health Risk Conflicting classifications of pathogenicity —
RS528991245 COL18A1 Health Risk Conflicting classifications of pathogenicity Hereditary glaucoma, primary closed-angle
RS528991858 VPS13B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome
RS5290 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS529008617 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS529010293 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS529015303 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS529016471 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529018517 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS529018971 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS529026517 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS529027225 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS529030284 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS529032571 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS529035779 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS529038948 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS529043916 OTOG Health Risk Pathogenic —
RS529046133 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS529048339 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
RS529050943 JAK2 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS529055709 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS529064753 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS529077809 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS529079748 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS529080443 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS529087882 NUDT2 Health Risk Pathogenic/Likely pathogenic NUDT2-associated condition, Intellectual disability
RS529110098 COL9A3 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS529120446 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS529121143 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS529123534 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS529131866 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS529132215 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS529148674 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS529153604 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS529167250 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS529168934 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS529174213 ERCC6 Health Risk Pathogenic —
RS529174941 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS529176585 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS529176890 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS529177486 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS529184143 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS529188563 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS529198383 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS529198764 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS529199293 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS529201454 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS529201914 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS529202615 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS529214120 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS529220318 ZEB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mowat-Wilson syndrome
RS529225111 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS529227054 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS529229239 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529232938 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS529233633 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Familial meningioma
RS529233762 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS529235567 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS529240463 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS529241207 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS529243785 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS529250336 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS529255491 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS529260934 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529267374 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS529290186 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS529294719 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS529296539 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS5293 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism
RS529301177 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS529307157 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS529315200 PEPD Health Risk Pathogenic —
RS529316227 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS529317104 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS529321970 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS529327549 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS529340553 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS529341502 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Ovarian serous cystadenocarcinoma
RS529345041 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS529349803 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS529353814 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS529355834 USH2A Health Risk Pathogenic —
RS529360609 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Retinitis pigmentosa
RS529366765 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS529367667 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS529368098 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS529369619 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS529373050 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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