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
RS118203997 PALB2 Health Risk Pathogenic Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome
RS118203998 PALB2 Health Risk Pathogenic Fanconi anemia complementation group N, Familial cancer of breast
RS118203999 PALB2 Health Risk Pathogenic Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome
RS118204000 SEC23A Health Risk Pathogenic Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
RS118204001 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS118204003 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS118204004 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS118204005 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, MAT1A-related disorder
RS118204006 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS118204007 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS118204008 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
RS118204009 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1
RS118204010 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS118204011 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS118204014 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS118204015 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS118204016 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Abnormal circulating enzyme concentration
RS118204017 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS118204018 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS118204020 L2HGDH Health Risk Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS118204021 L2HGDH Health Risk Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria, L2HGDH-related disorder
RS118204022 WDR36 Health Risk Conflicting classifications of pathogenicity Glaucoma 1, open angle
RS118204024 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS118204025 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS118204026 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS118204027 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Nonsyndromic genetic hearing loss
RS118204028 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS118204029 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS118204030 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS118204031 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS118204032 NEK8 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS118204034 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS118204035 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS118204039 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS118204040 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS118204041 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS118204042 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS118204043 RSPH4A Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS118204044 MMADHC Health Risk Pathogenic/Likely pathogenic Homocystinuria-megaloblastic anemia cblD type, Methylmalonic aciduria and homocystinuria type cblD
RS118204045 MMADHC Health Risk Pathogenic Homocystinuria-megaloblastic anemia cblD type, Homocystinuria-megaloblastic anemia cblD type
RS118204046 MMADHC Health Risk Pathogenic/Likely pathogenic Homocystinuria-megaloblastic anemia cblD type, Methylmalonic aciduria and homocystinuria type cblD
RS118204047 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Isolated methylmalonic aciduria cblD type
RS118204048 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS118204049 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS118204050 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS118204051 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, COACH syndrome 1
RS118204052 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, COACH syndrome 2
RS118204053 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Inborn genetic diseases
RS118204055 RBM28 Health Risk Pathogenic ANE syndrome, ANE syndrome
RS118204056 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS118204057 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204058 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204059 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204060 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204061 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS118204062 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204063 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204064 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204065 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204066 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204067 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204068 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204069 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204070 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204071 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204072 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204073 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204074 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204075 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204076 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS118204077 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS118204078 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS118204079 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204080 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS118204081 LPL Health Risk Pathogenic LIPOPROTEIN LIPASE (OLBIA), Hyperlipoproteinemia
RS118204082 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS118204084 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS118204085 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS118204089 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS118204090 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS118204091 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS118204092 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS118204093 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS118204094 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204095 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Leukoencephalopathy
RS118204096 HMBS Health Risk Pathogenic Acute intermittent porphyria, Encephalopathy
RS118204097 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204098 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204099 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204100 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204101 HMBS Health Risk Pathogenic Acute intermittent porphyria, Encephalopathy
RS118204103 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204104 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204105 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204107 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204108 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204109 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Encephalopathy
RS118204110 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS118204111 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204112 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
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