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
RS199738915 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS199739297 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome
RS199739341 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS199739437 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Malignant lymphoma, large B-cell
RS199739835 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199739859 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS199739868 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS199740072 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS199740086 TACR3 Health Risk Likely pathogenic —
RS199740595 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS199740615 IRF9 Health Risk Conflicting classifications of pathogenicity —
RS199740650 CHD1 Health Risk Conflicting classifications of pathogenicity Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS199740747 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS199740819 PDE6H Health Risk Conflicting classifications of pathogenicity Achromatopsia 6, Achromatopsia 6
RS199740875 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS199740882 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS199740930 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS199741062 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS199741162 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS199741493 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS199741678 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS199741850 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
RS199741966 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS199742342 GPI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency
RS199742600 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, DCAF17-related disorder
RS199742668 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS199742873 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS199743139 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS199743242 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199743509 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS199744254 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199744440 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS199744457 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS199744595 CALM1 Health Risk Pathogenic Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
RS199744635 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS199744649 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS199744696 ATXN1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 1, Inborn genetic diseases
RS199745070 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS199746221 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS199746481 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS199746697 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS199747285 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS199747455 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Inborn genetic diseases
RS199747712 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS199747962 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6
RS199747984 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS199748187 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS199748300 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS199748488 PACS2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS199748499 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Inborn genetic diseases
RS199748733 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS199748938 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS199749069 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS199749070 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199749212 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS199749372 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS199749473 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS199749736 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS199749996 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS199750143 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS199750146 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS199750191 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS199751095 ARHGEF1 Health Risk Conflicting classifications of pathogenicity ARHGEF1-related disorder, ARHGEF1-related disorder
RS199751168 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Amyotrophic lateral sclerosis type 1
RS199751225 ALS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis
RS199751308 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS199752008 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS199752248 PIDD1 Health Risk Conflicting classifications of pathogenicity PIDD1-associated neurodevelopmental disorder, Intellectual developmental disorder
RS199752292 HIF1A Health Risk Likely pathogenic Enchondromatosis, Enchondromatosis
RS199752361 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS199752396 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS199752762 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS199752932 DUOX2 Health Risk Conflicting classifications of pathogenicity Familial thyroid dyshormonogenesis, Thyroid dyshormonogenesis 6
RS199753643 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, ANKRD26-related disorder
RS199754770 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS199754807 ERCC8;NDUFAF2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS199755408 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS199755508 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS199755731 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS199755800 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS199756204 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199756380 FLG Health Risk Pathogenic —
RS199756880 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199756953 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Acute myeloid leukemia
RS199756983 POMK Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS199757302 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, 11 conditions
RS199757347 SPINK5 Health Risk Pathogenic Netherton syndrome, Susceptibility to nonsyndromic otitis media
RS199757831 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS199758082 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myopathy
RS199758112 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS199758196 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS199758244 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS199758476 VPS11 Health Risk Conflicting classifications of pathogenicity —
RS199758510 TGFB1 Health Risk Conflicting classifications of pathogenicity —
RS199758976 TMEM38B Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS199759055 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS199759119 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypoalphalipoproteinemia
RS199759398 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS199759434 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199759929 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
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