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
RS149773722 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS149775261 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS149775657 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS149776121 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS149776188 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS149777109 PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, 11p partial monosomy syndrome
RS149778841 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS149780335 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS149781186 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS149781976 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS149782443 SH3KBP1 Health Risk Conflicting classifications of pathogenicity SH3KBP1-related disorder, SH3KBP1-related disorder
RS149782549 HEPACAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149782619 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Peripheral neuropathy
RS149783130 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS149783296 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS149783680 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS149784122 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS149785500 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS149787233 CRYAB Health Risk Conflicting classifications of pathogenicity Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy
RS149787558 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS149787596 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS149788703 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS149789018 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS149789202 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS149789969 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, ADAMTS10-related disorder
RS149790356 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS149790377 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS149790559 OFD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Orofaciodigital syndrome I
RS149790950 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149793005 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS149794430 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS149795690 INSR Health Risk Conflicting classifications of pathogenicity —
RS149797103 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS149797560 CRYM Health Risk Conflicting classifications of pathogenicity —
RS149797758 SPG7 Health Risk Likely pathogenic —
RS149798940 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS149800437 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS149801673 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS149802213 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Achromatopsia
RS149802222 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS149802590 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS149802708 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS149803133 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS149804782 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS149806390 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS149806516 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS149806586 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS149806989 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS149807281 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS149807469 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS149808180 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS149808366 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS149808404 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial type 5 hyperlipoproteinemia
RS149809170 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS149809232 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS149810307 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS149812437 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS149813671 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS149814041 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS149814450 BRAT1 Health Risk Pathogenic/Likely pathogenic BRAT1-related disorder, Neonatal-onset encephalopathy with rigidity and seizures
RS149815227 CRB2 Health Risk Pathogenic/Likely pathogenic Ventriculomegaly-cystic kidney disease, Focal segmental glomerulosclerosis 9
RS149817329 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS149817614 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS149817769 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS149818737 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS149819328 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS149819397 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 9
RS149820303 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS149822970 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS149823637 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS149824485 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS149825190 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, GALK1-related disorder
RS149825755 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS149826387 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS149827237 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS149827260 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS149827415 CLCN2 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS149827779 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS149828062 ENPP1 Health Risk Likely pathogenic Inherited obesity, Arterial calcification
RS149830411 KANSL1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Koolen-de Vries syndrome
RS149830493 COL9A1 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS149830675 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS149831544 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS149832160 ZDHHC15 Health Risk Conflicting classifications of pathogenicity —
RS149832483 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS149833360 PLA2G5 Health Risk Conflicting classifications of pathogenicity Familial benign flecked retina, Familial benign flecked retina
RS149834171 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149834477 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS149834874 VWF Health Risk Conflicting classifications of pathogenicity Abnormality of coagulation, Abnormal bleeding
RS149836249 LRIT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149836639 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS149837083 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS149837139 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS149837193 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149837553 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS149838946 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS149839355 GTPBP3 Health Risk Conflicting classifications of pathogenicity —
RS149840242 POLR1C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149840356 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS149840771 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Monogenic diabetes
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