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
RS1440123856 SPTA1 Health Risk Likely pathogenic —
RS144012972 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440139690 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS144014118 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1440142042 MED13L Health Risk Likely pathogenic MED13L-related neurodevelopmental disorder, MED13L-related neurodevelopmental disorder
RS1440146478 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS144016130 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS1440167859 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1440168275 PLEKHG5 Health Risk Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS144016984 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS144018015 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS144018320 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS144018361 NCF1 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS144018609 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS144018942 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1440194810 DICER1 Health Risk Likely pathogenic Pleuropulmonary blastoma, Pleuropulmonary blastoma
RS1440200916 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS144020613 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS144021475 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1440223488 PLEKHA7 Health Risk Likely pathogenic PLEKHA7-related disorder, PLEKHA7-related disorder
RS144022590 HDAC4 Health Risk Conflicting classifications of pathogenicity HDAC4-related disorder, HDAC4-related disorder
RS144022753 KCNJ2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1440229445 TWNK Health Risk Conflicting classifications of pathogenicity —
RS144023021 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS144023029 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS144023803 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS144024245 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS144024361 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS1440249864 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS144025230 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS144025762 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144025892 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1440259390 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS144025957 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1440262870 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS144026608 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440280370 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1440284508 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS144028766 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS144028775 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS144029037 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS144029167 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144029176 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS144029286 PIGG Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS144030074 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS144030155 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS144030835 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS144031245 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS144031424 NDP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440317369 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS144031818 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS1440319688 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS144032104 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS1440328650 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS144033740 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS144034147 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS144034290 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS144034291 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS144034433 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS144034808 POC1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440353274 ACER3 Health Risk Pathogenic ACER3-related disorder, Familial cancer of breast
RS144035770 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1440361406 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS144036466 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS144036995 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS144037391 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia 24, Primary ciliary dyskinesia 24
RS1440380546 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS144038082 MYO6 Health Risk Conflicting classifications of pathogenicity MYO6-related disorder, Autosomal dominant nonsyndromic hearing loss 22
RS144038192 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144038296 MSRB3 Health Risk Conflicting classifications of pathogenicity —
RS144038427 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
RS1440404360 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS144040999 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS144041081 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS1440411798 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS144041768 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440418037 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS144041807 COL11A2 Health Risk Likely pathogenic —
RS144042123 TRIT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases
RS1440421643 DYM Health Risk Pathogenic —
RS1440423616 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1440427338 RTN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144042993 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS144043066 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS144043387 FBLN1 Health Risk Conflicting classifications of pathogenicity FBLN1-related disorder, FBLN1-related disorder
RS1440439015 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS144043939 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144045461 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1440468666 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS144046917 DNAJC21 Health Risk Conflicting classifications of pathogenicity DNAJC21-related disorder, Familial cancer of breast
RS144047610 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1440482403 MRE11 Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS144048656 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS144049751 MDH1B Health Risk Conflicting classifications of pathogenicity —
RS144049904 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS144049906 RS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144049982 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS144051466 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS144051775 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS1440521229 MPDZ Health Risk Likely pathogenic —
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