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
RS769244826 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS769245094 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS769245111 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS769246932 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS769247212 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS769247289 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769247787 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS769248531 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS769248873 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS769248944 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS769250170 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS769250455 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS769250780 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS769251149 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS769251374 CENPF Health Risk Likely pathogenic —
RS769251450 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Geleophysic dysplasia
RS769251936 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS769252159 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS769253036 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS769254295 WDR1 Health Risk Pathogenic Lazy leukocyte syndrome, Lazy leukocyte syndrome
RS769254776 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS769255883 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS76925601 KCNN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Zimmermann-Laband syndrome 3
RS769256027 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS769256062 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS769256352 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS769256568 PHGDH Health Risk Pathogenic/Likely pathogenic Neu-Laxova syndrome 1, PHGDH deficiency
RS769256610 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS769257773 MYO15A Health Risk Pathogenic —
RS769258044 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Spastic ataxia
RS769258094 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS769259145 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS769259233 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS769259446 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome
RS769259449 SYNPO Health Risk Conflicting classifications of pathogenicity SYNPO-related disorder, SYNPO-related disorder
RS769260126 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769260277 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS769260473 MBTPS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769260536 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS769261274 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS769264662 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS769265675 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS769266169 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, PNPO-related disorder
RS769266225 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS769267043 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS769267513 AHCY Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769267893 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769268803 GCK Health Risk Pathogenic Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2
RS769269885 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS769271960 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS769272823 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS769273526 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769274302 MYRF Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Cardiac-urogenital syndrome
RS769274919 GPC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS769275003 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769276081 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS769276313 NLRP5 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS769276577 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS769276632 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS769276948 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS769277893 CASP14 Health Risk Conflicting classifications of pathogenicity Ichthyosis, congenital
RS769277939 PROC Health Risk Conflicting classifications of pathogenicity Reduced protein C activity, Thrombophilia due to protein C deficiency
RS769278668 TDP1 Health Risk Conflicting classifications of pathogenicity —
RS769279343 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769279368 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS769279475 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769279843 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS769280371 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS769280599 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS769280736 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity —
RS769281672 TG Health Risk Likely pathogenic —
RS769281819 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS769281862 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769283184 ABCA4 Health Risk Likely pathogenic —
RS769283409 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS769283410 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769284245 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS769284314 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS769284492 SYNE1 Health Risk Likely pathogenic —
RS769285695 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Meckel syndrome
RS769286175 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769286352 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Febrile seizures
RS769287098 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769288132 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS76928874 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS769289729 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS769289876 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS769290414 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS769291842 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS769291880 NPHP3 Health Risk Pathogenic NPHP3-related Meckel-like syndrome, NPHP3-related Meckel-like syndrome
RS769292296 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS769292531 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS769293834 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS769294243 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS769294354 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS769294568 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769294626 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS769294778 MFRP Health Risk Pathogenic Nanophthalmos 2, Nanophthalmos 2
RS769295096 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769296548 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
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