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
RS138416665 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1384167696 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS138417551 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1384182085 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS138418494 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS138419017 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS138419275 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS138419523 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138419634 TTI2 Health Risk Conflicting classifications of pathogenicity Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases
RS138420081 GORAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384212298 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS138421793 MC2R Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS138421862 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384228127 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS138423094 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS138423103 DGAT2 Health Risk Conflicting classifications of pathogenicity —
RS138423108 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS138423670 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1384237868 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS138423878 CFAP43 Health Risk Pathogenic —
RS1384239050 MMP21 Health Risk Pathogenic —
RS138424013 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS138424288 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS138426138 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS138427178 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS138427376 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS138427861 DYM Health Risk Conflicting classifications of pathogenicity —
RS138428438 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS138428805 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138429045 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS138429238 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1384292566 COL9A3 Health Risk Likely pathogenic Lattice retinal degeneration, Retinal detachment
RS1384293775 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1384295949 KBTBD13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 6
RS1384297085 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1384298522 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1384309620 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1384312757 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1384315216 PHYH Health Risk Pathogenic —
RS1384322636 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1384323646 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS138432416 CBS Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, HYPERHOMOCYSTEINEMIA
RS138433243 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS138434001 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1384342700 HPS6 Health Risk Pathogenic/Likely pathogenic —
RS1384344292 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138435128 SDR9C7 Health Risk Conflicting classifications of pathogenicity Ichthyosis, congenital
RS138435568 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS138435584 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS138435590 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS1384360004 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1384363306 CDH3 Health Risk Pathogenic —
RS138436961 MCEE Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS138437422 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384374956 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS138437526 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, Elliptocytosis 3
RS138437710 KRT74 Health Risk Conflicting classifications of pathogenicity —
RS138437852 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS138437966 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, AP4M1-related disorder
RS138438183 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1384386872 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS138438849 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1384393001 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS138439950 TK2 Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
RS1384402545 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1384411524 TBX18 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2
RS138441172 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS1384412486 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS138441444 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS138441779 TANGO2 Health Risk Conflicting classifications of pathogenicity TANGO2-related disorder, Inborn genetic diseases
RS138442198 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS138443282 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS138443479 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS138443787 CCDC50 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 44, Hearing impairment
RS138444697 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS138445233 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS138445573 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1384460756 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1384466058 LRAT Health Risk Likely pathogenic Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS138447102 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-epilepsy-extrapyramidal syndrome, DEAF1-related disorder
RS138447206 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder
RS1384474600 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS138447882 CACNA1F Health Risk Pathogenic —
RS1384480619 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS138448968 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS138449068 COQ7 Health Risk Conflicting classifications of pathogenicity —
RS138449255 SLC26A1 Health Risk Conflicting classifications of pathogenicity Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
RS138449445 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1384495572 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked distal spinal muscular atrophy type 3
RS1384496494 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Corpus callosum
RS138449967 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS138450235 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS138450474 SCN1B Health Risk Pathogenic/Likely pathogenic Brugada syndrome 5, Brugada syndrome 5
RS138450923 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS1384515505 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1384516142 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1384523881 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS138452752 SLC25A19 Health Risk Conflicting classifications of pathogenicity SLC25A19-related disorder, SLC25A19-related disorder
RS138452760 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS138452803 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
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