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
RS777767978 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Lafora disease
RS777768672 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS777768807 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS777768843 NPHP3 Health Risk Pathogenic NPHP3-related Meckel-like syndrome, Nephronophthisis 3
RS777771368 TUBB3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Complex cortical dysplasia with other brain malformations 1
RS777772072 TRPV1 Health Risk Conflicting classifications of pathogenicity —
RS777773061 ARID1A Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Coffin-Siris syndrome
RS777773801 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS777774802 CYP4V2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS777777303 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777777359 TMC1 Health Risk Pathogenic Hearing loss, autosomal recessive
RS777778428 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS77777862 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS777779701 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS777779770 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777780952 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS777781528 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777782696 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS777782794 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS777783398 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777784105 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS777784520 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS777784662 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS77778467 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 1
RS777785526 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS777786097 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
RS777786993 CCND2 Health Risk Pathogenic/Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
RS777787526 DGKE Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS777787687 PLCE1 Health Risk Pathogenic —
RS777788092 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS777789027 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS777789161 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777790247 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777790290 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS777791532 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS777791545 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS777793030 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS777793881 PNLIP Health Risk Pathogenic —
RS777795072 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777796458 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777796838 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777796888 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS777797545 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS777798089 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS777798807 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS777799551 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777799897 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS777800520 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS777801764 CWC27 Health Risk Pathogenic —
RS777801910 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS777802829 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS777803301 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS777803897 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS777805156 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS777805216 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Benign familial hematuria
RS777805288 ROR1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 108
RS777806779 PKLR Health Risk Likely pathogenic —
RS777809068 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS777809121 OTOG Health Risk Conflicting classifications of pathogenicity —
RS777809198 CHRNG Health Risk Pathogenic/Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS777810074 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS777810717 NAGS Health Risk Likely pathogenic —
RS777811841 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS777811953 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS777812455 AFG2B Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with hearing loss and spasticity
RS777812804 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS777813072 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS777814445 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777815255 PLPBP Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS777815715 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS777816615 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS777817144 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS777818556 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS777818976 CEL Health Risk Conflicting classifications of pathogenicity —
RS777819332 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS777820126 CNNM2 Health Risk Conflicting classifications of pathogenicity Hypomagnesemia, seizures
RS777821034 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS777821109 NDUFAF6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS777821562 COQ4;TRUB2 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS777822883 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS777823741 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS777823752 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS77782413 MICAL2 Health Risk Conflicting classifications of pathogenicity —
RS777825421 TECTA Health Risk Pathogenic —
RS777825620 TG Health Risk Pathogenic —
RS777825824 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS777825865 AP4B1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS777826268 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS777826616 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS777826645 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, SBF2-related disorder
RS777826971 MEF2C Health Risk Pathogenic —
RS777828000 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS777828072 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS777828182 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS777828224 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777828441 TUBGCP6 Health Risk Conflicting classifications of pathogenicity TUBGCP6-related disorder, TUBGCP6-related disorder
RS777829351 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS777829958 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS777830265 PCNT Health Risk Pathogenic —
RS777831008 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
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