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
RS727503762 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency
RS727503763 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency
RS727503764 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS727503765 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS727503766 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503767 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS727503768 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503769 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503770 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503771 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503772 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503773 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, 6 conditions
RS727503774 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Wiedemann-Steiner syndrome
RS727503775 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Wiedemann-Steiner syndrome
RS727503776 SMC1A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS727503777 KMT2A Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS727503778 TAF6 Health Risk Pathogenic Cornelia de Lange syndrome 1, Alazami-Yuan syndrome
RS727503779 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS727503780 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS727503781 WDPCP Health Risk Pathogenic Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome
RS727503782 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503783 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503784 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS727503785 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS727503786 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS727503788 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS727503789 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS727503791 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS727503794 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS727503795 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS727503796 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS727503797 ACTA1 Health Risk Likely pathogenic ACTA1-related disorder, ACTA1-related disorder
RS727503798 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Congenital myopathy 2c
RS727503799 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS727503802 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS727503807 AP1S2 Health Risk Conflicting classifications of pathogenicity —
RS727503809 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, ARSB-related disorder
RS727503811 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS727503812 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS727503814 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS727503815 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS727503818 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS727503821 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS727503822 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS727503824 BEST1 Health Risk Pathogenic Stargardt disease, Vitelliform macular dystrophy 2
RS727503826 BCOR Health Risk Pathogenic —
RS727503827 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS727503828 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS727503830 DMD Health Risk Pathogenic —
RS727503832 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS727503833 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS727503835 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS727503836 DMD Health Risk Pathogenic —
RS727503837 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS727503838 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS727503839 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS727503840 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS727503841 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS727503844 DMD Health Risk Pathogenic —
RS727503846 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS727503850 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS727503852 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS727503853 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS727503854 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS727503855 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS727503857 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS727503858 DMD Health Risk Pathogenic —
RS727503859 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS727503860 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS727503861 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS727503862 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS727503863 CHD7 Health Risk Pathogenic —
RS727503864 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS727503865 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS727503866 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS727503867 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS727503868 MED12 Health Risk Pathogenic/Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
RS727503869 MED12 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FG syndrome
RS727503870 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS727503871 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS727503872 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS727503873 POMT2 Health Risk Pathogenic —
RS727503877 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS727503878 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS727503881 COL11A1 Health Risk Pathogenic —
RS727503882 COL2A1 Health Risk Pathogenic —
RS727503883 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1B
RS727503884 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS727503885 COL6A3 Health Risk Conflicting classifications of pathogenicity —
RS727503887 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS727503889 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS727503893 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS727503894 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS727503895 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, DBT-related disorder
RS727503896 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS727503897 DCX Health Risk Conflicting classifications of pathogenicity —
RS727503898 DCX Health Risk Pathogenic —
RS727503899 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS727503900 DLG3 Health Risk Pathogenic —
RS727503901 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
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