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
RS776565863 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS776566245 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
RS776566319 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS776567343 PDHX Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Inborn genetic diseases
RS776567773 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS776567929 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS776568168 KIF22 Health Risk Conflicting classifications of pathogenicity KIF22-related disorder, KIF22-related disorder
RS776568529 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS776568544 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776569081 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS776569219 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS776569472 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS776569822 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS776570716 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS776570778 FRAS1 Health Risk Pathogenic/Likely pathogenic FRAS1-related disorder, Fraser syndrome 1
RS776571416 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS77657214 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS776572343 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS776574641 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS776576205 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS776576899 COL11A2 Health Risk Pathogenic —
RS776577038 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS776577137 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS776579906 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS776581420 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS776581998 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS776582090 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS776582567 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS776583130 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS776584760 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776584949 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Episodic ataxia type 2
RS776585907 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS776587206 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS776587395 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS776587763 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, FGFR2-related craniosynostosis
RS776588426 TP53RK Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS776590274 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS776590557 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS776590711 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS776591533 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS776591659 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS776592297 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS776592421 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS776592661 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH-related disorder
RS776592829 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS776593228 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS776593477 ITGA3 Health Risk Likely pathogenic ITGA3-related disorder, ITGA3-related disorder
RS776593972 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776594413 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS776594920 SLC27A4 Health Risk Conflicting classifications of pathogenicity Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS776595230 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS776595927 KCNH2 Health Risk Pathogenic —
RS776596093 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS776596192 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776596987 VARS1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS776597537 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS776599992 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS776601022 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS776601736 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS776601946 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS776602307 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS776604878 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS776605087 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776605111 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS776605924 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS776606194 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS776606453 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776606476 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS776606789 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 6, Noonan syndrome 6
RS776608168 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS776608445 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS776608546 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS776608678 NIN Health Risk Conflicting classifications of pathogenicity —
RS776610051 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS776610373 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Leucine-induced hypoglycemia
RS776610506 MYOF Health Risk Conflicting classifications of pathogenicity —
RS776611767 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, COL1A1-related osteogenesis imperfecta
RS776613041 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS776613510 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS776613953 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS776614086 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776616377 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS776616431 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS776616540 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS776617179 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS776617733 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS776618390 F2 Health Risk Conflicting classifications of pathogenicity F2-related disorder, Prolonged prothrombin time
RS776618806 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776619662 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS776620952 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS776621303 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS776621429 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS776623792 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS776624491 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS776624865 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS776625365 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS776625874 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS776627066 SZT2 Health Risk Pathogenic —
RS776627170 DDX11 Health Risk Pathogenic/Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS776628272 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
« Prev 1 ... 3626 3627 3628 3629 3630 3631 3632 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →