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
RS771710451 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771710562 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771710781 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS771711980 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS771712041 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS771712321 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS771712968 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771713040 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771714007 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS771714154 SIRT6 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS771714168 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS771715532 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS771715883 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS771715893 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS771717941 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Limb-girdle muscular dystrophy
RS771717980 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771718064 TG Health Risk Pathogenic —
RS771718484 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS771718522 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS771718967 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS771719677 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS771719773 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS771719843 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS771720319 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
RS771720649 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS771720952 SBDS Health Risk Likely pathogenic —
RS771720993 RNF168 Health Risk Pathogenic —
RS771721410 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS771721648 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS771721809 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS771721862 FLG Health Risk Pathogenic Dermatitis, atopic
RS771721926 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS771721952 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS771722300 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS771723580 TULP1 Health Risk Pathogenic —
RS771725115 MTFMT Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
RS771725706 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS771726260 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS771726762 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS771728837 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS771729218 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS771730236 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS771730802 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS771730987 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS771732436 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS771732591 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771732955 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS771733361 LRP2 Health Risk Conflicting classifications of pathogenicity Non-syndromic syndactyly, Donnai-Barrow syndrome
RS771734704 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS771735295 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS771735871 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS771736389 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS771737095 ESPN Health Risk Conflicting classifications of pathogenicity ESPN-related disorder, ESPN-related disorder
RS77173848 ANK1 Health Risk Conflicting classifications of pathogenicity SPHEROCYTOSIS, TYPE 1
RS771739225 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinal dystrophy
RS7717393 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan
RS771739312 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS771740564 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS771740989 TOR1A Health Risk Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia
RS771741325 CEP250 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS771741606 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS771741670 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771741876 FREM2 Health Risk Pathogenic —
RS771742318 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS771742424 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS771742619 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS771742741 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS771742823 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis
RS771744013 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS771745123 SLC25A16 Health Risk Conflicting classifications of pathogenicity Inherited isolated nail anomaly, autosomal recessive isolated fingernail dysplasia
RS771746222 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS771746998 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS771747701 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771748289 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS771748555 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS771749289 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS771749492 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Inborn genetic diseases
RS771751493 FARSB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771752014 COL18A1 Health Risk Pathogenic/Likely pathogenic Knobloch syndrome, Knobloch syndrome
RS77175207 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS77175303 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS771753579 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS771754539 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS771754714 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Inborn genetic diseases
RS771754817 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, Inborn genetic diseases
RS771755125 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS771755654 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS771755672 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771756810 DSG1-AS1;DSG4 Health Risk Pathogenic Ectodermal dysplasia, Ectodermal dysplasia
RS771758707 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
RS771759749 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS771759988 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS771760657 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS771760718 SYNE1 Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS771761288 SLC25A46 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1E
RS771761940 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS771764281 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS771764951 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS771765677 SPEG Health Risk Pathogenic —
RS771765839 DRAM2 Health Risk Likely pathogenic —
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