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
RS202088447 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Macular degeneration
RS202088921 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS202089120 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS202089770 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS202089818 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS202090289 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS202090342 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS2020906 FBXO11;MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS202090928 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS202091014 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS202091104 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, BENTA disease
RS202091131 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS202091142 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2020912 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS202091411 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS202091466 DEF6 Health Risk Conflicting classifications of pathogenicity —
RS202091548 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS202091837 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS202092147 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202092276 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202092407 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS202092409 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS202093296 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202093384 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS202093497 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS202093691 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, OSTM1-related disorder
RS202093724 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS202094100 TTN Health Risk Pathogenic Cardiovascular phenotype, Tibial muscular dystrophy
RS202094225 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS202094227 TERB2 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS202094467 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS202094480 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS202094530 SMAD3 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS202094576 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS202094637 CFAP298 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS202094672 KIDINS220 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, intellectual disability
RS202094835 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS202094920 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS202095023 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS202095070 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2020952 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS202095215 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS202095223 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS202095358 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS202095395 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS202095663 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FRAS1-related disorder
RS202095767 MME Health Risk Conflicting classifications of pathogenicity Early-onset dementia of unclear type, Early-onset dementia of unclear type
RS2020959 ERCC4 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group F
RS2020960 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Xeroderma pigmentosum
RS2020961 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS202096172 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, COL4A4-related disorder
RS202096200 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202096363 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS202096577 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS202096874 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS202097537 EPS8 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 102, EPS8-related disorder
RS202097958 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS202097968 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS202098093 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS202098250 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS202098308 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS202098389 COX6B1 Health Risk Conflicting classifications of pathogenicity —
RS202098481 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS202098889 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS202099475 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS202099523 P2RX2 Health Risk Conflicting classifications of pathogenicity P2RX2-related disorder, P2RX2-related disorder
RS202099525 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202100019 STAMBP Health Risk Pathogenic —
RS202100672 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202100944 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS202101019 CDH23 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1
RS202101152 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS202101164 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS202101309 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS202101384 SDHB Health Risk Conflicting classifications of pathogenicity Mitochondrial complex 2 deficiency, nuclear type 4
RS202102042 NPPA Health Risk Conflicting classifications of pathogenicity Atrial standstill 2, Atrial fibrillation
RS202102193 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS202102305 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS202102540 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS202102586 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS202102671 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, Inborn genetic diseases
RS202102691 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Inborn genetic diseases
RS202102815 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS202103048 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS202103224 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS202103390 RAX2 Health Risk Conflicting classifications of pathogenicity —
RS202103485 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS202103570 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Inborn genetic diseases
RS202103893 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS202103941 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS202103949 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS202104039 CYP26C1 Health Risk Conflicting classifications of pathogenicity Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV
RS202104160 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS202104381 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS202104395 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO2-related disorder
RS202104448 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS202104749 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS202105292 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS202105422 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS202105427 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
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