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
RS777252763 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS777253263 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS777253444 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS777255057 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS777255851 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS777256419 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS777257591 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS777257965 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777258179 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS777259232 FOXRED1 Health Risk Pathogenic —
RS777259654 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS777259835 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS777262055 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777263062 PMFBP1 Health Risk Pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS777263669 TCTN3 Health Risk Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS777263711 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS777264204 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS777265470 COL1A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta type I
RS777266031 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777266074 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS777267276 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS777267343 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS777268917 PNPLA1 Health Risk Likely pathogenic Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 10
RS777269054 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS777269070 PKD1 Health Risk Pathogenic Polycystic kidney disease, Inborn genetic diseases
RS777269140 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS777270336 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS777270890 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS777271861 DMXL2 Health Risk Pathogenic —
RS777272957 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS777273518 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS777273652 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS777273785 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS777274761 DDX3X Health Risk Pathogenic —
RS777275355 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS777276705 DDX54 Health Risk Likely pathogenic Neurodevelopmental delay, Intellectual disability
RS777276873 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS777277026 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777277500 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS777277938 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS777278685 SETD1B Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay
RS777279065 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS777280350 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS777281668 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS777282696 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS777282955 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777285019 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS777285104 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS777285586 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS777286020 TONSL Health Risk Pathogenic —
RS777286639 FTCD Health Risk Pathogenic/Likely pathogenic Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS777286835 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS777288244 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS777288340 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS777288665 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS777288668 SPART Health Risk Pathogenic Troyer syndrome, Troyer syndrome
RS777288773 REST Health Risk Pathogenic —
RS777290108 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777290134 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS777290427 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77729067 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, BCS1L-related disorder
RS777291159 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS777292177 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS777293815 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777295041 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS777295398 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS777295562 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS777296241 MMUT Health Risk Pathogenic —
RS777297575 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 3, Rare genetic deafness
RS777297837 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS777298957 CTSK Health Risk Likely pathogenic —
RS777299440 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS777300218 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS777302019 LARS1 Health Risk Pathogenic —
RS777302246 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777302517 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS777302616 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS777302843 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS777303307 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS777303718 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS777303823 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS777304794 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS777305169 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS777305503 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777305743 CDHR1 Health Risk Likely pathogenic —
RS777305766 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777306476 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS777306829 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-related disorder
RS777306884 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS777307167 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS777308198 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS777308221 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS777308612 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS777309662 ADGRV1 Health Risk Pathogenic Usher syndrome, Retinal dystrophy
RS777310871 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS777313061 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
RS777313457 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS777313666 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS777313709 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS777315336 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic 27
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