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
RS1428780420 TBC1D2B Health Risk Likely pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS142878172 REL Health Risk Conflicting classifications of pathogenicity Immunodeficiency 92, Lymphoma
RS1428782325 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS142878958 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS142878980 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS1428791574 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1428798262 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS142880107 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1428801547 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS142880342 HERC2 Health Risk Conflicting classifications of pathogenicity HERC2-related disorder, Inborn genetic diseases
RS142880448 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142880784 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS142881014 EBP Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS142881321 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS142881576 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS1428826948 APOL1 Health Risk Likely benign; risk factor Focal segmental glomerulosclerosis 4, susceptibility to
RS142882745 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS142882915 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, TRIP12-related disorder
RS142883042 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS142883089 HNF4A Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1
RS142883160 UNC45B Health Risk Conflicting classifications of pathogenicity UNC45B-related disorder, UNC45B-related disorder
RS142883811 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS142883889 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 46
RS142884499 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS142884576 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS142885240 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa
RS142885571 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS142887785 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS142887940 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS142888296 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, GLRA1-related disorder
RS1428885377 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS142888552 SLC20A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142888621 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
RS1428887459 DOCK6 Health Risk Likely pathogenic —
RS142889209 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Inborn genetic diseases
RS1428896067 DTHD1 Health Risk Conflicting classifications of pathogenicity —
RS142889639 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1428899305 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS142890313 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1428903431 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS142890619 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS142890707 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder
RS1428922464 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS142893093 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1428934331 TBX4 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS142893758 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS142894102 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Intellectual disability
RS1428945272 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS142895837 TRMT10A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS142896856 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS142897482 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS142897830 PLB1 Health Risk Conflicting classifications of pathogenicity —
RS1428979499 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS142898216 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS142898530 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS142898715 NLRP12 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Autoinflammatory syndrome
RS1428990840 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS142899178 ADGRG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142899308 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS1428994453 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS142900209 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1429007292 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS142901178 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS142901223 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS142901689 IL6ST Health Risk Conflicting classifications of pathogenicity IL6ST-related disorder, IL6ST-related disorder
RS142902080 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease type 4
RS142903119 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS142903218 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS1429038413 KIZ Health Risk Pathogenic —
RS1429044506 OBSCN Health Risk Pathogenic —
RS1429051935 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS1429055509 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1429055740 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS142905621 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1429057946 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS142905845 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142905862 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hemolytic anemia
RS142906652 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS142907521 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142907547 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, MED13L-related disorder
RS142907552 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS142908182 MAMLD1 Health Risk Conflicting classifications of pathogenicity Hypospadias 2, X-linked
RS142908436 GMPPB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy
RS142909496 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS142909885 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS142910337 INSR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, INSR-related disorder
RS142910445 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142910480 STAR Health Risk Conflicting classifications of pathogenicity —
RS142910512 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1429116502 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 19
RS1429118574 ALDH4A1 Health Risk Likely pathogenic See cases, See cases
RS142912356 SLC25A12 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 39
RS142912485 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS142912565 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1429126106 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1429128979 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS142913108 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS142913613 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS1429137932 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Retinitis pigmentosa 20
RS1429138569 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
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