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
RS2484676547 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484676651 PEX1 Health Risk Pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS2484681679 ASNS Health Risk Likely pathogenic —
RS2484681802 ASNS Health Risk Pathogenic —
RS2484681831 ASNS Health Risk Pathogenic —
RS2484681925 ASNS Health Risk Pathogenic —
RS2484681972 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484681976 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484682064 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484682116 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484682215 ASNS Health Risk Pathogenic —
RS2484682228 AUTS2 Health Risk Pathogenic —
RS2484682243 ASNS Health Risk Pathogenic —
RS2484682263 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484682376 ASNS Health Risk Pathogenic —
RS2484683408 AUTS2 Health Risk Likely pathogenic AUTS2-related disorder, AUTS2-related disorder
RS2484684324 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484685603 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 1
RS2484685766 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484685958 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484687452 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484687511 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484687530 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484687585 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2484687761 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2484687766 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484687782 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484687812 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484689730 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2484692020 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2484692157 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484692172 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484692279 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484692316 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484693664 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484697837 ASNS Health Risk Pathogenic —
RS2484697936 ASNS Health Risk Pathogenic —
RS2484698074 ASNS Health Risk Pathogenic —
RS2484698452 ASNS Health Risk Pathogenic —
RS2484698495 ASNS Health Risk Pathogenic —
RS2484698591 ASNS Health Risk Pathogenic —
RS2484698746 ASNS Health Risk Pathogenic —
RS2484699587 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484699591 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484699831 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484700107 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484700140 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484700598 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484700675 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484700681 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484701452 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484701546 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484701891 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2484701919 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484702514 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484702523 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484702701 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484702728 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484702780 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484702812 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484702837 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484702919 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484703148 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484703198 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484703200 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484703261 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484703270 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484703325 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484703480 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484703483 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484703516 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484703527 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484703768 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484703792 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484703860 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484703971 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484704040 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484704043 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484704178 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484704194 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484704264 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484704272 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484704280 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484704330 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484705116 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2484705722 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484705751 COL1A2 Health Risk Conflicting classifications of pathogenicity Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
RS2484705896 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484705943 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484706839 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484706962 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484707621 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484707686 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2484707689 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484707979 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484708037 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484708228 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484708250 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484708287 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484708328 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
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