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
RS1485129708 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS148513102 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1485132228 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness
RS148513391 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS148513462 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS1485152854 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS148515768 ATP5F1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148515772 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS148516118 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1485161784 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1485166517 KCNC1 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS148516756 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS148516831 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS148517241 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1485173724 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS148517685 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148517780 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS148518198 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer
RS1485186943 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS148518738 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS148519623 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1485203990 NSRP1 Health Risk Pathogenic Microcephaly, Seizure
RS1485209013 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1485209355 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Inborn genetic diseases
RS148522587 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS148523065 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS148523430 PDE4DIP Health Risk Likely pathogenic See cases, See cases
RS148524451 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS148524969 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148525155 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS148525366 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS148525401 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder
RS148525631 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS1485260432 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS148526209 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS148526515 ANKH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148527903 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS148528251 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS148529785 BUD23 Health Risk Conflicting classifications of pathogenicity —
RS1485297878 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS148530368 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS1485307916 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS148530934 SERPINB6 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS148531289 ST3GAL3 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 15
RS148532198 BLTP3B Health Risk Conflicting classifications of pathogenicity —
RS148532589 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS148532757 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS1485329117 GABBR2 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS148533341 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCDH15-related disorder
RS1485334519 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS148533702 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
RS148534162 ATP13A2 Health Risk Conflicting classifications of pathogenicity ATP13A2-related disorder, Kufor-Rakeb syndrome
RS1485345396 DYNC2H1 Health Risk Likely pathogenic Neonatal respiratory distress, Asphyxiating thoracic dystrophy 3
RS1485348453 PIK3C2A Health Risk Pathogenic —
RS148534854 TRPV4 Health Risk Conflicting classifications of pathogenicity Metatropic dysplasia, Brachyrachia (short spine dysplasia)
RS148535251 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, CDH3-related disorder
RS148535298 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS148535388 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS148535504 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Cervical cancer
RS148535912 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS148535965 HSPB3 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS148536538 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148536971 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS148537653 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS148538056 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1485384156 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1485384861 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS148538980 EMC1 Health Risk Pathogenic Obesity, Obesity
RS148539097 ABCC11 Health Risk Conflicting classifications of pathogenicity —
RS1485393201 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS148539877 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS148539966 MECOM Health Risk Conflicting classifications of pathogenicity —
RS148540645 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS148540696 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS148540952 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1485409783 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS148541407 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
RS148541545 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, LBR-related disorder
RS1485416933 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1485421362 COL4A4 Health Risk Pathogenic —
RS1485423178 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1485424248 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS148542548 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS1485425659 AP3B2 Health Risk Pathogenic —
RS148542782 CYP1B1 Health Risk Pathogenic Glaucoma 3A, Primary congenital glaucoma
RS1485428182 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1485432119 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1485433167 BMPER Health Risk Pathogenic —
RS148543792 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS148544177 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS148544471 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1485445500 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 3, NPHP3-related Meckel-like syndrome
RS148544801 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS148544893 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1485450031 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS148545339 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS148545460 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1485454693 DNAH9 Health Risk Pathogenic —
RS148545569 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1485456037 MYO7A Health Risk Likely pathogenic Hearing impairment, Hearing impairment
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