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
RS1774291665 CPLANE1 Health Risk Likely pathogenic Median cleft lip and palate, Dysgenesis of the cerebellar vermis
RS1774316033 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1774323015 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1774342365 ELOVL4 Health Risk Pathogenic —
RS1774344831 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774361781 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1774369632 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1774388527 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1774419692 ZNF292 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 64
RS1774445982 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1774464446 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1774465781 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1774478421 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1774481189 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS1774484879 RFX6 Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1774516234 PPIL1 Health Risk Likely pathogenic Neurodevelopmental disorder, Pontocerebellar hypoplasia
RS1774518252 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774519367 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774519872 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774538111 LAMA2 Health Risk Likely pathogenic —
RS1774541313 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1774569455 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1774569874 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1774572282 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1774582485 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1774594545 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, PEX7-related disorder
RS1774596232 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder
RS1774610957 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774616485 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS1774630121 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774633192 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774695889 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774698674 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774703982 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774704214 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS1774704452 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1774741085 EYS Health Risk Pathogenic —
RS1774743530 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1774743884 EYS Health Risk Pathogenic —
RS1774851704 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1774852599 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1774855104 EYS Health Risk Pathogenic —
RS1774857297 EYS Health Risk Pathogenic —
RS1774908660 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1774908820 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1774962105 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS1774968270 HIVEP2 Health Risk Conflicting classifications of pathogenicity HIVEP2-related disorder, HIVEP2-related disorder
RS1774993424 HIVEP2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1774993567 HIVEP2 Health Risk Pathogenic —
RS1775078845 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1775079523 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1775080757 RTN4IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1775102736 MAK Health Risk Pathogenic —
RS1775120706 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775143865 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775150569 ZNF292 Health Risk Likely pathogenic —
RS1775154516 ZNF292 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1775161294 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, ZNF292-related disorder
RS1775173231 HIVEP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1775176471 ZNF292 Health Risk Likely pathogenic —
RS1775179321 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775194783 ZNF292 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS1775199259 HIVEP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1775202280 HIVEP2 Health Risk Pathogenic —
RS1775204653 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS1775218146 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775229041 ZNF292 Health Risk Likely pathogenic ZNF292-related disorder, ZNF292-related disorder
RS1775232605 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS1775233922 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS1775234077 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775234925 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS1775236367 ZNF292 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental disorder
RS1775264625 ZNF292 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Microcephaly
RS1775284293 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775285095 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Inborn genetic diseases
RS1775300950 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1775302275 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1775311864 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1775313883 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1775315900 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1775316036 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1775316198 LAMA2 Health Risk Pathogenic —
RS1775334064 ZNF292 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS1775347142 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1775349014 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1775351921 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1775360219 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1775368255 ZNF292 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Inborn genetic diseases
RS1775373904 PKHD1 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1775403177 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775415071 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Inborn genetic diseases
RS1775428953 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1775442122 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1775463168 ZNF292 Health Risk Likely pathogenic —
RS1775468280 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS1775494843 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder
RS1775506324 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS1775508204 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775510548 HIVEP2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1775512496 RSPH4A Health Risk Likely pathogenic RSPH4A-related disorder, RSPH4A-related disorder
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