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
RS202145681 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS202145941 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, FH-related disorder
RS202146097 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS202146344 PGAP3 Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS202147112 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS202147495 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Pituitary adenoma 5
RS202147607 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS202148411 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS202148693 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS202148793 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS202148801 CR1 Health Risk Conflicting classifications of pathogenicity —
RS202148932 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS202148971 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202148988 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS202149382 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202149403 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, Nephronophthisis
RS202149526 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder
RS202149647 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS202149761 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS202149931 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202149945 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS202149985 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS202150225 AR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Androgen resistance syndrome
RS202150325 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS202150793 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS202150912 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS202150959 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS202151337 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS202151375 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS202151522 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS202152511 SCN9A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS202152674 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS202152952 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS202153052 ALPK3 Health Risk Pathogenic —
RS202153130 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS202153520 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS202153611 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS202153689 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS202153947 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS202154006 PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, 11p partial monosomy syndrome
RS202154028 GANAB Health Risk Conflicting classifications of pathogenicity —
RS202154504 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202154759 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS202155515 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS202155613 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS202155679 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS202156491 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder
RS202156673 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS202156895 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pituitary adenoma 5
RS202156896 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS202157063 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS202157161 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS202157455 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS202158511 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS202158568 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS202158691 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS202158738 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS202158964 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS202158991 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS202159067 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETD1A-related disorder
RS202159463 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS202159627 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS202159869 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS202159934 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS202159946 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS202159966 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS202160072 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS202160208 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
RS202160275 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS202160435 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS202160464 MMP9 Health Risk Conflicting classifications of pathogenicity —
RS202160739 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS202160755 STIM1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS202160994 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS202161021 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
RS202161397 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS202161551 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS202161592 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS202161781 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS202161790 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS202161810 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS202162034 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS202162088 SAMD9L Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 49, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS202162247 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS202162496 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS202162520 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Self-limited epilepsy with centrotemporal spikes
RS202164262 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS202164519 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases
RS202164814 ARMC9 Health Risk Conflicting classifications of pathogenicity ARMC9-related disorder, ARMC9-related disorder
RS202165247 ARSG Health Risk Conflicting classifications of pathogenicity —
RS202166023 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS202166083 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS202166096 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS202166176 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS202166253 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Thrombocythemia 1
RS202166344 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS202166561 ACAN Health Risk Conflicting classifications of pathogenicity —
RS202166715 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS202166889 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS202167077 ECEL1 Health Risk Conflicting classifications of pathogenicity ECEL1-related disorder, Inborn genetic diseases
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