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
RS74957591 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS749577520 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS749578252 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS749578295 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS749578474 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS749579925 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS749580328 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS749580877 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS749583615 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS749583854 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS749584082 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS749584249 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749584277 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS749584846 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS749586225 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity MSH3-related disorder, Hereditary cancer-predisposing syndrome
RS749587119 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS749587320 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS749587463 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS749588235 FARS2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14
RS749588699 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS749590229 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749590293 CITED2 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 8, CITED2-related disorder
RS749590736 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749591910 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS749593004 COL6A2 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS749593050 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS749593461 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS749595462 POLE Health Risk Conflicting classifications of pathogenicity —
RS749596514 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS749596892 ELP1 Health Risk Pathogenic —
RS749597090 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749597091 GNB5 Health Risk Pathogenic/Likely pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Inborn genetic diseases
RS749598296 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS749598830 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS749599371 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS749599838 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS749600689 TAF15 Health Risk Conflicting classifications of pathogenicity TAF15-related disorder, TAF15-related disorder
RS749602688 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS749602970 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS749603273 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS749603354 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS749605438 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS749605981 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS749606141 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS749606240 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749606788 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS749606885 NCF2 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS749607205 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS749608995 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS749610328 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS749610641 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749611797 B9D1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 9
RS749611934 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS749613899 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS749615956 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749616160 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS749616545 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS749616603 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749616608 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS749617848 SIX6 Health Risk Conflicting classifications of pathogenicity —
RS749617913 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS749619355 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS749619435 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS749619625 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS749620886 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS749621457 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS749621716 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS749621872 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS749621890 EXTL3 Health Risk Pathogenic/Likely pathogenic Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities
RS749622044 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS749622191 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS749624669 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS749625288 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS749626453 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS749626601 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS749626631 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Developmental and epileptic encephalopathy
RS749626865 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS749627411 LARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 4, Perrault syndrome
RS749628937 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS749630029 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS749630366 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS749630454 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS749631362 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS749631821 MED17 Health Risk Pathogenic/Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS749632423 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS749632782 ANKRD11 Health Risk Pathogenic KBG syndrome, Intellectual disability
RS749633038 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749633059 SNAP29 Health Risk Pathogenic —
RS749633105 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS749633223 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS749633483 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS749633616 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS749633685 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, 6 conditions
RS749633690 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS749633839 ERBB2 Health Risk Conflicting classifications of pathogenicity —
RS749633941 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS749634060 SMCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Facioscapulohumeral muscular dystrophy 2
RS749634352 ERCC4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS749635212 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS749635819 WHRN Health Risk Conflicting classifications of pathogenicity —
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