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
RS1057518856 PKD1 Health Risk Likely pathogenic Hepatic cysts, Pancreatic cysts
RS1057518862 SMARCA4 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Single transverse palmar crease
RS1057518863 COL7A1 Health Risk Likely pathogenic Finger syndactyly, Toe syndactyly
RS1057518864 TCF4 Health Risk Pathogenic 7 conditions, Pitt-Hopkins syndrome
RS1057518865 SCN4A Health Risk Conflicting classifications of pathogenicity Myotonia, Handgrip myotonia
RS1057518866 DMD Health Risk Pathogenic Myopathy, Duchenne muscular dystrophy
RS1057518867 ATP7B Health Risk Likely pathogenic Kayser-Fleischer ring, Hand tremor
RS1057518868 FOXF1 Health Risk Likely pathogenic Atresia of urethra, Fetal megacystis
RS1057518871 COL5A1 Health Risk Likely pathogenic 10 conditions, 10 conditions
RS1057518872 GJA1 Health Risk Pathogenic Cutaneous finger syndactyly, Intellectual disability
RS1057518873 SPAST Health Risk Likely pathogenic Spastic paraparesis, Spastic paraparesis
RS1057518874 SPG11 Health Risk Conflicting classifications of pathogenicity Spastic paraparesis, Gait disturbance
RS1057518878 MAF Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS1057518879 PLOD1 Health Risk Pathogenic 6 conditions, 8 conditions
RS1057518880 SPAST Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1057518881 FBN1 Health Risk Likely pathogenic Lens subluxation, Tall stature
RS1057518883 FBN1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1057518884 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1057518886 HMBS Health Risk Pathogenic Fever, Vomiting
RS1057518887 SEPSECS Health Risk Likely pathogenic 7 conditions, Pontocerebellar hypoplasia type 2D
RS1057518888 DYNC1H1 Health Risk Conflicting classifications of pathogenicity 9 conditions, Charcot-Marie-Tooth disease axonal type 2O
RS1057518890 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1057518891 CHD7 Health Risk Pathogenic 6 conditions, 6 conditions
RS1057518895 AIFM1 Health Risk Pathogenic/Likely pathogenic Foot dorsiflexor weakness, Pes planus
RS1057518896 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Lower limb pain
RS1057518897 PKD1 Health Risk Pathogenic/Likely pathogenic Hypertensive disorder, Multiple renal cysts
RS1057518898 DYNC2H1 Health Risk Pathogenic Fetal growth restriction, Narrow chest
RS1057518899 PKD1 Health Risk Pathogenic Polycystic kidney disease, Hypertensive disorder
RS1057518900 SCN9A Health Risk Pathogenic Pain insensitivity, Generalized epilepsy with febrile seizures plus
RS1057518901 APC Health Risk Pathogenic Adenomatous colonic polyposis, Familial adenomatous polyposis 1
RS1057518903 MEN1 Health Risk Pathogenic 6 conditions, 6 conditions
RS1057518904 NF1 Health Risk Pathogenic Cafe au lait spots, multiple
RS1057518905 DPM3 Health Risk Likely pathogenic Myopathy, EMG: myopathic abnormalities
RS1057518906 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1057518907 GNAS Health Risk Pathogenic 8 conditions, Pseudohypoparathyroidism type 1B
RS1057518908 COL2A1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1057518909 FBN1 Health Risk Pathogenic Myopia, Tall stature
RS1057518910 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Cerebrooculofacioskeletal syndrome 1
RS1057518911 COL2A1 Health Risk Likely pathogenic Disproportionate short-limb short stature, Narrow chest
RS1057518912 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1057518913 EHMT1 Health Risk Pathogenic/Likely pathogenic 6 conditions, Kleefstra syndrome 1
RS1057518914 RPS6KA3 Health Risk Likely pathogenic 14 conditions, 14 conditions
RS1057518915 PANK2 Health Risk Pathogenic Neurodegeneration, Hypoprebetalipoproteinemia
RS1057518916 SCN5A Health Risk Likely pathogenic Syncope, Syncope
RS1057518917 FAM131B;CLCN1 Health Risk Pathogenic Myotonia, Congenital myotonia
RS1057518918 ARID1B Health Risk Likely pathogenic 6 conditions, Neoplasm
RS1057518919 PSEN1 Health Risk Pathogenic Mental deterioration, Dementia
RS1057518920 DSP Health Risk Pathogenic Cardiac arrhythmia, Bicuspid aortic valve
RS1057518921 MED12 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1057518922 RPE65 Health Risk Pathogenic Abnormality of vision, Abnormal electroretinogram
RS1057518923 PKD1 Health Risk Pathogenic Dilatation of the cerebral artery, Hepatic cysts
RS1057518925 COL6A2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Hyperextensible hand joints
RS1057518926 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Anterior creases of earlobe
RS1057518927 OAT Health Risk Likely pathogenic Optic atrophy, Abnormal choroid morphology
RS1057518928 SOX5 Health Risk Likely pathogenic Severe global developmental delay, Generalized hypotonia
RS1057518930 COL1A1 Health Risk Pathogenic Blue sclerae, Osteopenia
RS1057518932 EFTUD2 Health Risk Likely pathogenic Global developmental delay, Seizure
RS1057518933 CASR Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypocalciuria
RS1057518934 HERC2 Health Risk Pathogenic 8 conditions, 8 conditions
RS1057518935 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Distal lower limb muscle weakness, Inborn genetic diseases
RS1057518936 PNPLA6 Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Dysarthria
RS1057518938 MYH11 Health Risk Likely pathogenic Myopia, Aortic root aneurysm
RS1057518939 VPS13B Health Risk Pathogenic 9 conditions, Cohen syndrome
RS1057518940 RYR1 Health Risk Pathogenic/Likely pathogenic Delayed gross motor development, Congenital contracture
RS1057518942 NPC1 Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS1057518943 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Lower limb muscle weakness, Difficulty walking
RS1057518944 NIPBL Health Risk Likely pathogenic 9 conditions, Cornelia de Lange syndrome 1
RS1057518945 TSC1 Health Risk Likely pathogenic Cortical tubers, Adenoma sebaceum
RS1057518946 GJB1 Health Risk Likely pathogenic 8 conditions, Charcot-Marie-Tooth Neuropathy X
RS1057518949 IMPDH1 Health Risk Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 11
RS1057518950 TPO Health Risk Likely pathogenic 7 conditions, Deficiency of iodide peroxidase
RS1057518951 ARID1B Health Risk Pathogenic Corpus callosum, agenesis of
RS1057518952 PKHD1 Health Risk Pathogenic Polycystic kidney disease, Ventricular hypertrophy
RS1057518953 SLC2A1 Health Risk Likely pathogenic Paroxysmal dystonia, GLUT1 deficiency syndrome 1
RS1057518955 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal disorder, Visual impairment
RS1057518956 ZEB1 Health Risk Pathogenic Glaucoma, Visual loss
RS1057518957 CHRND Health Risk Likely pathogenic Ptosis, Breathing dysregulation
RS1057518958 CHRND Health Risk Likely pathogenic Ptosis, Breathing dysregulation
RS1057518959 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Hypertensive disorder
RS1057518960 GJA1 Health Risk Likely pathogenic 7 conditions, Atrioventricular septal defect and common atrioventricular junction
RS1057518961 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Delayed gross motor development, Delayed speech and language development
RS1057518962 DMD Health Risk Pathogenic 6 conditions, Dilated cardiomyopathy 3B
RS1057518963 OPHN1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1057518965 ATM Health Risk Pathogenic/Likely pathogenic Immunodeficiency, Conjunctival telangiectasia
RS1057518966 MUSK Health Risk Conflicting classifications of pathogenicity Delayed gross motor development, Bilateral ptosis
RS1057518967 COL1A2 Health Risk Pathogenic Multiple prenatal fractures, Skeletal dysplasia
RS1057518968 DTNA Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Noncompaction cardiomyopathy
RS1057518969 PKD2 Health Risk Pathogenic Polycystic kidney disease, Elevated systolic blood pressure
RS1057518970 RYR1 Health Risk Conflicting classifications of pathogenicity Respiratory insufficiency, Congenital muscular dystrophy
RS1057518971 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS1057518972 TRPS1 Health Risk Pathogenic/Likely pathogenic Alopecia areata, Brachydactyly
RS1057518973 FBN1 Health Risk Pathogenic Mitral regurgitation, Ectopia lentis
RS1057518974 NF1 Health Risk Pathogenic/Likely pathogenic Axillary freckling, Cafe-au-lait spot
RS1057518977 SMAD3 Health Risk Pathogenic Vascular dilatation, Aneurysm-osteoarthritis syndrome
RS1057518978 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1057518980 KIF11 Health Risk Likely pathogenic Retinal dysplasia, Microcephaly
RS1057518981 RORA Health Risk Pathogenic/Likely pathogenic Severe intellectual deficiency, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS1057518984 ARID1B Health Risk Pathogenic Coffin-Siris syndrome, Intellectual disability
RS1057518985 STXBP1 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057518986 AUTS2 Health Risk Likely pathogenic Pierre Robin-like syndrome, Pierre Robin-like syndrome
« Prev 1 ... 63 64 65 66 67 68 69 ... 4509 Next »

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

Get Started Free →