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
RS144847384 IFT74 Health Risk Conflicting classifications of pathogenicity IFT74-related disorder, Optic atrophy
RS144847554 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144848 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS144848215 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Inborn genetic diseases
RS144848283 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS144848584 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS144848597 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations
RS144848825 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144848990 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS144848998 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1448501611 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144850331 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS144850845 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144850908 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144851092 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS144851263 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS1448515860 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS144851657 PLOD3 Health Risk Conflicting classifications of pathogenicity —
RS144851946 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS144851998 VCAN Health Risk Conflicting classifications of pathogenicity —
RS1448524929 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1
RS144852646 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Inborn genetic diseases
RS144853230 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1448532668 COL4A4 Health Risk Pathogenic —
RS1448536540 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS144853671 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144854652 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS144854858 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS1448553293 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS144855583 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS144855738 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS144856406 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS144856548 PTPRN2 Health Risk Conflicting classifications of pathogenicity —
RS144856889 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144857453 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS144857547 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS1448580874 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS144859183 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS144859947 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS144860227 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS144860334 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy
RS144860423 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 12
RS1448604709 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS144860976 EPG5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Vici syndrome
RS144862290 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS144862714 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS144863059 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1448630830 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS144863771 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1448641464 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS144864297 SNAPC4 Health Risk Pathogenic Neurodevelopmental disorder with motor regression, progressive spastic paraplegia
RS144864475 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1448645093 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144864886 MKRN3 Health Risk Conflicting classifications of pathogenicity —
RS1448650040 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1448653785 NKX2-1 Health Risk Pathogenic NKX2-1-related disorder, NKX2-1-related disorder
RS144866250 PRSS12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 1
RS144866271 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, ROGDI-related disorder
RS144866585 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1448668382 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1448673327 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS144868706 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144868723 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS144869229 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1448700521 COL11A2 Health Risk Pathogenic —
RS144870163 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, TECPR2-related disorder
RS144870368 MYL4 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1448706470 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS144870678 CDCP2 Health Risk Conflicting classifications of pathogenicity —
RS1448720360 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS144872390 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS144873307 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS144873806 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, TUBB3-related disorder
RS144873879 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS144874876 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS144874997 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS1448750061 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1448753696 PNPT1 Health Risk Likely pathogenic PNPT1-related disorder, PNPT1-related disorder
RS144875383 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS144875878 FLG2 Health Risk Conflicting classifications of pathogenicity —
RS144875913 TG Health Risk Pathogenic TG-related disorder, TG-related disorder
RS144875978 TAF6 Health Risk Conflicting classifications of pathogenicity TAF6-related disorder, Intellectual disability
RS1448764008 ATRX Health Risk Conflicting classifications of pathogenicity ATRX-related disorder, Alpha thalassemia-X-linked intellectual disability syndrome
RS1448778830 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS144878757 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS144879674 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1448799448 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS144879990 SAMD9L Health Risk Conflicting classifications of pathogenicity SAMD9L-related disorder, Inborn genetic diseases
RS144880038 COQ6 Health Risk Conflicting classifications of pathogenicity COQ6-related disorder, COQ6-related disorder
RS144880180 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS144880219 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS144880521 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, DTNA-related disorder
RS1448805941 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1448807519 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1448812001 MPL Health Risk Conflicting classifications of pathogenicity —
RS144881611 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS144881901 STAR Health Risk Pathogenic —
RS144882196 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS144882998 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS144883479 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
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