SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS794727663 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS794727664 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS794727666 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS794727669 COL1A2 Health Risk Likely pathogenic Bruck syndrome 1, Bruck syndrome 1
RS794727672 DMD Health Risk Pathogenic —
RS794727673 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS794727675 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS794727676 RYR2 Health Risk Conflicting classifications of pathogenicity —
RS794727678 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS794727680 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS794727683 RYR1 Health Risk Pathogenic/Likely pathogenic —
RS794727684 COL2A1 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia
RS794727687 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS794727688 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome
RS794727689 KMT2D Health Risk Pathogenic —
RS794727691 CPLANE1 Health Risk Pathogenic —
RS794727692 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS794727694 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS794727695 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS794727697 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, See cases
RS794727698 FH Health Risk Pathogenic —
RS794727699 GALT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS794727700 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS794727701 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS794727702 GALE Health Risk Pathogenic —
RS794727704 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS794727705 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS794727706 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS794727708 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS794727710 PAPSS2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS794727713 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS794727714 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS794727715 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Abnormality of the musculature
RS794727716 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS794727734 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS794727738 UBE3A Health Risk Pathogenic —
RS794727739 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Seizures
RS794727740 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS794727741 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizure, Early-infantile DEE
RS794727743 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS794727745 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS794727746 DMD Health Risk Pathogenic/Likely pathogenic —
RS794727748 COL2A1 Health Risk Pathogenic —
RS794727749 DMD Health Risk Pathogenic —
RS794727752 KMT2D Health Risk Pathogenic —
RS794727755 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727756 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS794727759 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS794727760 COL5A1 Health Risk Pathogenic COL5A1-related disorder, COL5A1-related disorder
RS794727761 COL2A1 Health Risk Pathogenic —
RS794727763 DMD Health Risk Pathogenic —
RS794727768 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS794727769 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS794727770 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727771 VPS13B Health Risk Pathogenic —
RS794727772 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS794727774 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS794727775 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS794727777 GUCA1A;GUCA1ANB-GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Retinal dystrophy
RS794727781 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS794727783 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS794727785 NDE1 Health Risk Conflicting classifications of pathogenicity —
RS794727786 SCN1A Health Risk Pathogenic —
RS794727788 COL6A2 Health Risk Pathogenic COL6A2-related disorder, Bethlem myopathy 1A
RS794727791 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS794727792 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS794727794 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS794727795 DMD Health Risk Pathogenic —
RS794727796 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS794727797 GPC6 Health Risk Conflicting classifications of pathogenicity —
RS794727798 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794727799 SLC16A2 Health Risk Conflicting classifications of pathogenicity Allan-Herndon-Dudley syndrome, Inborn genetic diseases
RS794727804 OPA1 Health Risk Pathogenic Inborn genetic diseases, Autosomal dominant optic atrophy classic form
RS794727805 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS794727808 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS794727813 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS794727815 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS794727819 PKHD1 Health Risk Likely pathogenic —
RS794727820 DMD Health Risk Pathogenic —
RS794727829 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727830 USH2A Health Risk Pathogenic —
RS794727832 DMD Health Risk Pathogenic —
RS794727835 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS794727836 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS794727838 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS794727839 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS794727840 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS794727843 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS794727846 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS794727847 BCKDHA Health Risk Pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS794727850 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS794727851 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS794727854 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS794727855 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727856 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS794727860 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS794727861 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727862 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727863 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727865 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
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