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
RS758234726 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758235027 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS758236336 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS758236529 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS758236584 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS758236845 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS758238174 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS758238449 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS758238682 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS758238787 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related disorder
RS758239066 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS758239190 C9 Health Risk Pathogenic —
RS758239327 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758239674 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 6
RS758240214 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS758241731 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS758241851 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS758242098 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS758242164 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS758242204 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS758242849 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758243927 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758243969 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS758245029 SPR Health Risk Likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS758245081 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS758245234 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS758245272 LMNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758245830 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758246234 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758246723 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS758246761 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS758246840 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS758247003 NDUFS8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 2
RS758247804 RYR1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita
RS758248236 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS758248456 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS758248912 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS758250423 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS758250431 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758250810 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758251566 CIB2 Health Risk Likely pathogenic CIB2-related disorder, CIB2-related disorder
RS758251652 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS758252610 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS758252808 HNMT Health Risk Pathogenic Intellectual disability, autosomal recessive 51
RS758253709 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS758254304 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS758255768 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS758258272 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS758258471 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome
RS758258662 CCDC88A Health Risk Conflicting classifications of pathogenicity PEHO-like syndrome, PEHO-like syndrome
RS758258701 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS758259365 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS758259853 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS758262369 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS758264018 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS758265897 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS758265909 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS758266841 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS758268792 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS758268866 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS758271660 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS758273663 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758274229 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS758275711 IL2RB Health Risk Pathogenic —
RS758275952 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS758276004 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS758276468 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS758276968 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS758277011 TUBGCP6 Health Risk Pathogenic —
RS758277406 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Abnormality of the musculature
RS758278200 PKLR Health Risk Likely pathogenic —
RS758278293 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS758279518 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758280185 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS758280375 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS758280554 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia)
RS758280625 IFNA14 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS758281375 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS758281393 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS758281815 CYP11B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Corticosterone 18-monooxygenase deficiency
RS758282201 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS758283022 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS758283688 TMEM67 Health Risk Likely pathogenic TMEM67-related disorder, TMEM67-related disorder
RS758285150 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS758285438 RAX2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 11, Age related macular degeneration 6
RS758285552 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS758286096 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS758286394 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS758286878 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS758287054 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS758287896 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS758288006 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS758288878 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS758289890 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS758289966 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS758290167 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758290425 C9 Health Risk Pathogenic —
RS758290491 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS758290860 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS758291032 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
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