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
RS201666606 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201666755 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201666889 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201667254 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201667363 INSR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS201667603 MBTPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201668897 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Inborn genetic diseases
RS201668928 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS201669114 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, PLEKHG5-related disorder
RS201669522 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Wolff-Parkinson-White pattern
RS201669595 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS201669763 HPS5 Health Risk Pathogenic —
RS201670044 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201670299 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS201670423 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS201670483 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS201670662 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201670791 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201671013 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS201671098 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS201671325 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS201671392 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS2016714761 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS201671566 PRPF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS201671718 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS201671992 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS201672011 APOE Health Risk Conflicting classifications of pathogenicity APOE5 VARIANT, 6 conditions
RS201672132 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS201672517 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS201672777 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201673334 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201673771 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201673987 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS201674226 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Lymphoma
RS201674363 CTPS1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
RS201674366 CELF2 Health Risk Likely pathogenic CELF2-related disorder, CELF2-related disorder
RS201674457 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS201674667 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS201674674 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201674835 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201674874 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS201674914 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201675191 INTS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, INTS1-related disorder
RS201675352 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL2A1-related disorder
RS201675394 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CCDC88C-related disorder
RS201675499 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS201675886 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS201675947 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS201675951 RYR2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS201676429 NPAT Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS201676628 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS201676629 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS201676770 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2016767710 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS201676898 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS201676960 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS201677317 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS201677553 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS201677741 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 3
RS201677978 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201678207 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Inborn genetic diseases
RS201678228 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS201678262 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2016789960 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS201679112 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS201679198 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201679510 MMP2 Health Risk Likely pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS201679731 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS201679831 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, Malignant hyperthermia
RS201680145 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS201681256 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201681328 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS201681639 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201681832 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS201681875 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS201682029 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS201682200 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation
RS201682415 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS201682634 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS201683491 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201683794 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS201683984 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS201684129 NPIPA1 Health Risk Conflicting classifications of pathogenicity —
RS201684605 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201684653 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201684898 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS201685063 SFTPC Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Surfactant metabolism dysfunction
RS201685079 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201685429 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS201685625 PSMD12 Health Risk Conflicting classifications of pathogenicity Stankiewicz-Isidor syndrome, Inborn genetic diseases
RS201685731 GPIHBP1 Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type 1D
RS201685748 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS201685981 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Ovarian serous cystadenocarcinoma
RS201686029 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS201686383 SNORD118 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS201686470 AP2S1 Health Risk Conflicting classifications of pathogenicity —
RS2016866550 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS201686865 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS2016868693 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS201686887 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
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