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
RS139842014 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1398420394 PNP Health Risk Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS1398420804 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS139842104 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS139842473 CLN3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Neuronal ceroid lipofuscinosis
RS1398428010 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS139842930 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS139843107 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1398433261 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS139844197 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS139845585 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 1
RS1398459455 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1398461143 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS139846706 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS1398473794 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1398477044 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, SLC4A1-related disorder
RS1398484902 SPTB Health Risk Likely pathogenic —
RS139848756 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Connective tissue disorder
RS1398488595 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1398488689 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS139849372 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS1398494529 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS139851311 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS139851379 FOXRED1 Health Risk Conflicting classifications of pathogenicity FOXRED1-related disorder, FOXRED1-related disorder
RS1398514249 TCTN1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1398515998 OTOGL Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS1398516348 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1398517498 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS139851890 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS139852370 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS139853094 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1398531485 CYP4V2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS139853344 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS139853969 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS139854607 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder
RS1398546361 HADH Health Risk Pathogenic/Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS139855779 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS139857045 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS139857136 SLC29A3 Health Risk Likely pathogenic H syndrome, Thyroid cancer
RS1398572096 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139857448 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS139857637 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS139857991 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS139858073 IRF4 Health Risk Conflicting classifications of pathogenicity —
RS1398583523 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS1398584213 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS139858574 PKD1L1 Health Risk Conflicting classifications of pathogenicity —
RS1398588555 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 29
RS139859350 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS139859703 TOPORS Health Risk Conflicting classifications of pathogenicity TOPORS-related disorder, Inborn genetic diseases
RS139859934 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS139859950 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139860168 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1398609491 MYO7A Health Risk Pathogenic —
RS139860990 TGM4 Health Risk Likely pathogenic Essential tremor, Essential tremor
RS139861061 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS1398611672 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1398613872 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1398616877 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS139862803 SLC25A1 Health Risk Pathogenic/Likely pathogenic SLC25A1-related disorder, SLC25A1-related disorder
RS1398628888 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1398639205 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS139864454 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS139864572 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS139864704 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS139864844 LFNG Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 3, autosomal recessive
RS139865448 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS139866632 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS139867430 OGDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139867598 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139868987 HSPA1L Health Risk association Inflammatory bowel disease 1, Inflammatory bowel disease 1
RS1398692057 LRP5 Health Risk Pathogenic/Likely pathogenic 9 conditions, Exudative vitreoretinopathy 4
RS139869965 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS139870141 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MDH2-related disorder
RS139870359 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Inborn genetic diseases
RS139870455 SDR9C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1398715312 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS139871607 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia
RS139872089 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS139872140 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, DTNA-related disorder
RS139872818 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS139873789 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS139875047 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS139875495 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS1398758559 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS139875974 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Atelosteogenesis type III
RS139876092 PADI3 Health Risk Pathogenic Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
RS139876383 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139876661 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS139877665 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS139879284 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
RS1398808477 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1398812622 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS139881378 TNS2 Health Risk Conflicting classifications of pathogenicity TNS2-related disorder, TNS2-related disorder
RS139881415 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS139882548 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS139882665 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS139882761 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS1398828108 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS139883194 PLEKHG2 Health Risk Conflicting classifications of pathogenicity PLEKHG2-related disorder, PLEKHG2-related disorder
« Prev 1 ... 486 487 488 489 490 491 492 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →