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
RS1554127531 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554127533 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554127968 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128347 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4B
RS1554128461 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128476 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128488 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128501 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128586 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128597 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1554128999 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554129000 PURA Health Risk Pathogenic —
RS1554129008 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129023 PURA Health Risk Likely pathogenic —
RS1554129035 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129039 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554129040 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, Intellectual disability
RS1554129045 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129049 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129050 PURA Health Risk Likely pathogenic —
RS1554129064 PURA Health Risk Pathogenic —
RS1554129069 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129086 PURA Health Risk Likely pathogenic —
RS1554129089 PURA Health Risk Pathogenic —
RS1554129091 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129096 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129099 PURA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554129100 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129113 PURA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129114 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1554129116 PURA Health Risk Pathogenic —
RS1554131502 POLR1C Health Risk Likely pathogenic Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS1554131871 KDM3B Health Risk Pathogenic/Likely pathogenic —
RS1554132747 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554132790 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554133681 TCOF1 Health Risk Likely pathogenic —
RS1554133736 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554134056 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1554134061 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1554134080 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554135458 CUL7 Health Risk Pathogenic —
RS1554135663 ADGRV1 Health Risk Pathogenic Usher syndrome, type IIC
RS1554136123 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554136433 NHLRC1 Health Risk Likely pathogenic —
RS1554136440 NHLRC1 Health Risk Likely pathogenic —
RS1554137109 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1554137113 TCOF1 Health Risk Pathogenic —
RS1554137130 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1554137419 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554137531 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554137532 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1554137913 CUL7 Health Risk Pathogenic —
RS1554138062 PNPLA1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma
RS1554138188 NPM1 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1554138189 NPM1 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia with NPM1 somatic mutations
RS1554138265 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS1554138549 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1554138553 CUL7 Health Risk Pathogenic/Likely pathogenic 3-M syndrome, 3M syndrome 1
RS1554138577 CUL7 Health Risk Pathogenic —
RS1554138811 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554138819 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554139129 PNPLA1 Health Risk Pathogenic —
RS1554139674 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1554139682 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1554139693 MEF2C Health Risk Likely pathogenic —
RS1554139723 MEF2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554139743 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1554139771 MEF2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554139870 MEF2C Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554140189 POLH Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554141842 POLH Health Risk Pathogenic —
RS1554143424 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1554143448 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1554143844 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1554144226 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554144359 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554144869 DCDC2 Health Risk Pathogenic/Likely pathogenic Isolated neonatal sclerosing cholangitis, Nephronophthisis 19
RS1554147220 LHFPL5 Health Risk Pathogenic Autosomal recessive non-syndromic intellectual disability, Autosomal recessive nonsyndromic hearing loss 67
RS1554147776 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS1554148927 AARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy, progressive
RS1554148965 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1554149875 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554150543 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1554150552 MEF2C Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia
RS1554150590 MEF2C Health Risk Pathogenic/Likely pathogenic —
RS1554150607 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1554152094 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1554152412 GCLC Health Risk Conflicting classifications of pathogenicity Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
RS1554154042 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1554157973 MMUT Health Risk Pathogenic —
RS1554158325 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158372 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158377 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158379 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158754 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1554158777 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554159871 MMUT Health Risk Likely pathogenic —
RS1554159942 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554159950 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder
RS1554160198 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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