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
RS369389737 IFNGR1 Health Risk Likely pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS369389970 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS369390092 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS369391284 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF8-related disorder
RS369394098 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS369394906 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS369395479 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS369395629 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS369395654 FOLR1 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS369396198 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS369396309 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS369396459 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS369396806 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS369396868 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369397158 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369398469 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS369398935 RARS1 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
RS369399424 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS369399450 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS369399624 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS369400414 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS369401526 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Uterine corpus endometrial carcinoma
RS369402343 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS369402366 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS369402461 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS369405564 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369406638 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369406683 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS369406915 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder
RS369407577 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS369408014 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS369408590 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS369410320 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS369410355 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS369410616 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS369410973 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS369414658 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Inborn genetic diseases
RS369416370 OTOF Health Risk Conflicting classifications of pathogenicity —
RS369417059 IKZF1 Health Risk Conflicting classifications of pathogenicity —
RS369417587 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS369417655 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS369418441 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS369419645 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS369419785 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS369419911 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS369421219 CACNA1C Health Risk Conflicting classifications of pathogenicity Ventricular tachycardia, Long QT syndrome
RS369421455 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS369422507 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS369424114 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, MYO7A-related disorder
RS369424360 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369425799 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS369425839 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Thyroid cancer
RS369427319 ERBIN Health Risk Conflicting classifications of pathogenicity ERBIN-related disorder, ERBIN-related disorder
RS369427864 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS369428934 AHCY Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS369429452 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 1
RS369429604 EDN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369429846 HPS1 Health Risk Conflicting classifications of pathogenicity —
RS369429961 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS369431026 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS369432764 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS369432845 BCOR Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Oculofaciocardiodental syndrome
RS369433292 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS369433978 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS369434104 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS369434563 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369435407 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS369435862 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1
RS369436489 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS369436545 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS369437168 ANKS6 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS369437593 LARS1 Health Risk Pathogenic/Likely pathogenic Infantile liver failure syndrome 1, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS369437807 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Age related macular degeneration 5
RS369438218 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS369438374 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS369438564 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369438839 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS369438865 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS369439346 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS369439944 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369440319 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369440387 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Polydactyly
RS369440533 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS369440853 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS369441230 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS369442980 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS369443458 PHKA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1
RS369444690 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369445146 PNPLA1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma
RS369445365 ACAD8 Health Risk Pathogenic Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase
RS369445518 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS369447207 TCAP Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS369448982 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, BCKDHA-related disorder
RS369449263 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS369449324 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS369449472 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369449821 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS369449858 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS369450271 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS369450623 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Inborn genetic diseases
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