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
RS1554231904 ARID1B Health Risk Pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome 1
RS1554232224 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554232919 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1554232925 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554232934 ARID1B Health Risk Pathogenic —
RS1554232959 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554233122 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554233151 ARID1B Health Risk Likely pathogenic —
RS1554233166 ARID1B Health Risk Pathogenic —
RS1554233187 ARID1B Health Risk Pathogenic —
RS1554234051 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554234161 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554234163 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554234341 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554234402 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554234424 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554234607 CEP85L Health Risk Conflicting classifications of pathogenicity Lissencephaly, Lissencephaly 10
RS1554235028 ARID1B Health Risk Pathogenic —
RS1554235041 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554235505 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554235541 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554235614 ARID1B Health Risk Pathogenic —
RS1554235699 ARID1B Health Risk Pathogenic —
RS1554235792 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554235834 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1554235841 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554235882 ARID1B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1554235916 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554235934 ARID1B Health Risk Pathogenic —
RS1554235950 ARID1B Health Risk Pathogenic —
RS1554236027 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554236030 ARID1B Health Risk Pathogenic —
RS1554236040 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1554236045 ARID1B Health Risk Pathogenic —
RS1554236054 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554236269 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS1554236600 ARID1B Health Risk Pathogenic —
RS1554237050 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554237269 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554237332 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554237335 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS1554237342 ARID1B Health Risk Pathogenic —
RS1554237473 ARID1B Health Risk Likely pathogenic —
RS1554237606 ARID1B Health Risk Pathogenic —
RS1554237658 ARID1B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS1554237689 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554237778 ARID1B Health Risk Likely pathogenic See cases, See cases
RS1554237785 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554237845 ARID1B Health Risk Likely pathogenic —
RS1554237848 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554237850 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1554237963 ARID1B Health Risk Pathogenic —
RS1554237979 ARID1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554237988 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554237992 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554238035 ARID1B Health Risk Pathogenic Inborn genetic diseases, ARID1B-related BAFopathy
RS1554238072 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS1554238093 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554238124 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554238125 ARID1B Health Risk Pathogenic —
RS1554238384 LAMA2 Health Risk Pathogenic —
RS1554239543 PSMB8 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS1554243821 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554244625 HACE1 Health Risk Likely pathogenic —
RS1554245388 HACE1 Health Risk Likely pathogenic —
RS1554246434 SYNE1 Health Risk Pathogenic —
RS1554247377 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554247605 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1554247637 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554247662 ARID1B Health Risk Pathogenic —
RS1554247806 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554247978 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554247989 ARID1B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS1554248082 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554248137 ARID1B Health Risk Pathogenic —
RS1554248228 ARID1B Health Risk Pathogenic —
RS1554248236 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554248273 ARID1B Health Risk Pathogenic —
RS1554248617 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554248794 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554248887 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554248926 COL9A1 Health Risk Pathogenic/Likely pathogenic —
RS1554249332 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1554249521 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554250040 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS1554250938 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS1554251045 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS1554251158 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS1554251191 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS1554251356 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS1554251609 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1554252200 PRKN Health Risk Likely pathogenic —
RS1554255966 DNAAF5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS1554256703 ARID1B Health Risk Pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS1554256965 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554257039 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Immunodeficiency 23
RS1554257255 MED23 Health Risk Likely pathogenic —
RS1554257381 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1554258695 PDE10A Health Risk Pathogenic/Likely pathogenic Infantile-onset generalized dyskinesia with orofacial involvement, Striatal degeneration
RS1554258777 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
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