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
RS1431655079 USP53 Health Risk Pathogenic —
RS143166696 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1431672096 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS143168314 SCYL1 Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Inborn genetic diseases
RS143168379 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS143168627 GEMIN4 Health Risk Conflicting classifications of pathogenicity GEMIN4-related disorder, GEMIN4-related disorder
RS143168888 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143169084 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS1431707463 CWF19L1 Health Risk Pathogenic —
RS143170974 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS1431710414 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS143171571 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS143172354 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS143172809 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS143172984 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1431736022 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS1431737113 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS143174736 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS143174906 PCSK1 Health Risk Conflicting classifications of pathogenicity Body mass index quantitative trait locus 12, Obesity due to prohormone convertase I deficiency
RS143175019 NLRP1 Health Risk Conflicting classifications of pathogenicity Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis
RS143175221 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hereditary hemochromatosis
RS1431752515 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Retinal dystrophy
RS1431754712 COL27A1 Health Risk Pathogenic —
RS1431755388 SMARCA4 Health Risk Likely pathogenic SMARCA4-related BAFopathy, SMARCA4-related BAFopathy
RS143175658 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS143176819 SYTL5 Health Risk Conflicting classifications of pathogenicity —
RS1431769783 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS143177272 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1431778557 SLC2A1 Health Risk Pathogenic Microcephaly, Abnormality of metabolism/homeostasis
RS1431778644 COL2A1 Health Risk Conflicting classifications of pathogenicity 16 conditions, 16 conditions
RS143178190 SVIL Health Risk Conflicting classifications of pathogenicity —
RS1431782575 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1431784023 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS143178677 TEK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1431787303 COL9A2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS143179070 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS143179371 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS143179681 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1431803321 EIF2B5 Health Risk Pathogenic —
RS1431803679 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS143180774 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS143180998 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS1431810286 EMC1 Health Risk Likely pathogenic —
RS1431811994 FREM2 Health Risk Pathogenic —
RS143181462 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II
RS143181565 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1431817331 ACO2 Health Risk Pathogenic —
RS143182569 NEUROG3 Health Risk Conflicting classifications of pathogenicity Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS143182625 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1431826489 PYURF Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS1431830142 ROBO1 Health Risk Pathogenic/Likely pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS143183215 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1431836046 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS143184345 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS143184349 RINT1 Health Risk Pathogenic —
RS1431844269 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS143184428 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS143185010 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143185259 PAX6 Health Risk Conflicting classifications of pathogenicity carboxymethyl-dextran-A2-gadolinium-DOTA, Autosomal dominant keratitis
RS143185806 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1431861933 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS143186270 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS143187630 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Cataract 22 multiple types
RS1431884649 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS143189186 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases
RS143189394 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS143189763 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1431898844 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1431909132 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143191074 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcoma
RS1431914212 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1431917892 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1431917980 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS143192349 ODAD3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 30, Inborn genetic diseases
RS143192828 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS143193258 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1431945795 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1431951130 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS143195229 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
RS1431954464 KARS1 Health Risk Likely pathogenic KARS1-related disorder, KARS1-related disorder
RS1431956318 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1431963909 GALNT2 Health Risk Pathogenic Congenital disorder of glycosylation, type iit
RS143196463 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS143196767 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1431972351 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1431973744 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1431975703 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS1431987950 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1431992617 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1432006875 POLR3K Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1432009039 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS143201338 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
RS143202281 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS1432024176 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS143202536 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1432037634 KCNV2 Health Risk Pathogenic —
RS143204063 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS143204084 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS143204089 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1432041144 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
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