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
RS2479121069 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2479122663 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2479124645 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2479126277 NIPBL Health Risk Likely pathogenic NIPBL-related disorder, NIPBL-related disorder
RS2479126945 VCAN Health Risk Likely pathogenic Wagner disease, Wagner disease
RS2479128379 NIPBL Health Risk Pathogenic —
RS2479131200 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2479143369 C6 Health Risk Pathogenic —
RS2479147425 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2479147977 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2479148171 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2479148728 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2479157275 C6 Health Risk Pathogenic —
RS2479159008 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2479176989 BLTP1 Health Risk Pathogenic —
RS2479185893 C9 Health Risk Likely pathogenic —
RS2479212710 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS2479235083 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479287232 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479287527 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479298976 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479303124 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479304832 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479356950 SLC12A2 Health Risk Pathogenic SLC12A2-related disorder, SLC12A2-related disorder
RS2479357233 SLC12A2 Health Risk Likely pathogenic SLC12A2-related disorder, SLC12A2-related disorder
RS2479370004 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479370058 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479370159 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479370902 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479370944 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479370952 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479371216 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479371494 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479371568 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479384286 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479384310 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479384434 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479384572 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479388076 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479388114 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479388398 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479388618 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479388898 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479409 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS2479424634 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479424740 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479427653 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479427723 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479427873 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479427969 RAD50 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2479428072 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479429305 SLC12A2 Health Risk Pathogenic —
RS2479434846 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479434954 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479435286 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479435369 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479439706 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479439728 SLC12A2 Health Risk Likely pathogenic Delpire-McNeill syndrome, Delpire-McNeill syndrome
RS2479439739 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS2479447199 CERT1 Health Risk Likely pathogenic —
RS2479456601 SLC12A2 Health Risk Pathogenic Kilquist syndrome, Kilquist syndrome
RS2479457796 IRF1 Health Risk Pathogenic Immunodeficiency 117, Immunodeficiency 117
RS2479462097 IRF1 Health Risk Pathogenic Immunodeficiency 117, Immunodeficiency 117
RS2479492253 PDE4D Health Risk Pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS2479493102 PDE4D Health Risk Pathogenic —
RS2479503377 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2479503492 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479503494 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479503498 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479503541 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479503553 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479503562 PURA Health Risk Pathogenic PURA-related disorder, PURA-related disorder
RS2479503825 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
RS2479503963 PURA Health Risk Likely pathogenic —
RS2479504471 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504515 PURA Health Risk Pathogenic —
RS2479504523 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504540 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504544 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504573 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504617 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504660 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
RS2479504762 PURA Health Risk Likely pathogenic PURA-related disorder, PURA-related disorder
RS2479504826 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479504896 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505036 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505261 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505592 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505694 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505705 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2479505711 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505836 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505873 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479506426 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479520123 LMNB1 Health Risk Likely pathogenic Microcephaly 26, primary
RS2479520814 CHD1 Health Risk Likely pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS2479531357 MEGF10 Health Risk Pathogenic Congenital myopathy 10b, mild variant
RS2479569695 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS2479570025 HINT1 Health Risk Likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS2479573777 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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