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
RS375700554 LRBA Health Risk Conflicting classifications of pathogenicity See cases, Combined immunodeficiency due to LRBA deficiency
RS375700657 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS375701380 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS375702318 ABCA12 Health Risk Pathogenic/Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS375702393 COG5 Health Risk Pathogenic/Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS375702969 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS375703153 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS375703502 MYL2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10
RS375704312 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS375704313 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS375704347 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS375704482 HNRNPK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375704787 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS375705174 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS375706327 PQBP1 Health Risk Conflicting classifications of pathogenicity —
RS375707429 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS375709098 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS375710640 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS375711140 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS375711798 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS375712066 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS375712202 HEPACAM Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Megalencephalic leukoencephalopathy with subcortical cysts 2B
RS375712326 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9
RS375712490 BTD Health Risk Pathogenic Biotinidase deficiency, Inborn genetic diseases
RS375713299 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS375713715 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS375714703 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS375716219 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS375716505 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS375716771 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS375717077 HADH Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS375717548 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS375717769 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS375718055 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS375718274 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 42, PERCHING syndrome
RS375718943 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS375719279 C8A Health Risk Conflicting classifications of pathogenicity —
RS375719734 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome
RS375720661 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency
RS375721252 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Ectopia lentis 1
RS375721419 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS375721791 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS375721961 CEP78 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS375722463 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS375722599 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS375722916 TMTC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375722926 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS375723852 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS375724338 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS375724891 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS375726193 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS375726644 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375726663 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS375727174 CDK5RAP2 Health Risk Pathogenic —
RS375727921 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Netherton syndrome
RS375727923 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS375729592 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Clear cell carcinoma of kidney
RS375730000 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375730019 TUBG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375730088 SPR Health Risk Pathogenic/Likely pathogenic Dystonic disorder, Dystonic disorder
RS375730175 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS375733283 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness
RS375733596 ANLN Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS375733834 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS375734152 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS375734891 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS375735101 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS375735354 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375735482 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS375735930 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375736124 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS375736274 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375736464 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS375737004 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS375737188 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Fetal akinesia deformation sequence 1
RS375737602 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation, Congenital disorder of glycosylation with defective fucosylation 2
RS375737772 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS375738491 SUCO Health Risk Conflicting classifications of pathogenicity —
RS375738970 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375739710 MYO5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375739973 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS375740918 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS375741383 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS375742212 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS375742430 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS375742620 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS375743004 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS375743017 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS375743879 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS375743897 IFT81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375746475 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS375746864 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS375747001 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS375749415 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS375752014 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Inborn genetic diseases
RS375752426 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS375753623 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS375754710 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS375755560 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS375755770 SCN3B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 7, Cardiovascular phenotype
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