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
RS2148389772 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389834 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389850 ABCD1 Health Risk Pathogenic —
RS2148389899 ABCD1 Health Risk Pathogenic —
RS2148389929 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389975 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389994 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148390396 YRDC Health Risk Pathogenic Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
RS2148391889 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148391907 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148391908 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148391915 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148391974 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148393387 MYT1L Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148395370 ABCD1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2148395507 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148395658 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148396057 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148396070 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397523 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397528 KIDINS220 Health Risk Pathogenic Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2148397545 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397558 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397565 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397619 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2148397899 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397922 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397936 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148397954 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148398002 ABCD1;PLXNB3-AS1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148398982 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148398995 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399015 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399029 ABCD1 Health Risk Pathogenic Primary adrenocortical insufficiency, Primary adrenocortical insufficiency
RS2148399034 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399060 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399201 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399204 ABCD1;PLXNB3-AS1 Health Risk Likely pathogenic —
RS2148399208 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399209 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399303 ABCD1 Health Risk Pathogenic —
RS2148399307 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS2148399308 ABCD1 Health Risk Likely pathogenic —
RS2148399327 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399330 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148399483 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148401189 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS2148409694 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS2148409748 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS2148410077 NBAS Health Risk Likely pathogenic —
RS2148412722 ADGRG1 Health Risk Pathogenic —
RS2148414753 PCARE Health Risk Pathogenic —
RS2148414919 PCARE Health Risk Pathogenic —
RS2148415202 PCARE Health Risk Pathogenic —
RS2148415381 PCARE Health Risk Pathogenic —
RS2148415455 PCARE Health Risk Pathogenic —
RS2148415467 PCARE Health Risk Pathogenic —
RS2148415628 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS2148415700 PCARE Health Risk Pathogenic —
RS2148415744 PCARE Health Risk Pathogenic —
RS2148416007 PCARE Health Risk Pathogenic —
RS2148416150 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS2148416171 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS2148416373 PCARE Health Risk Pathogenic —
RS2148416461 PCARE Health Risk Pathogenic —
RS2148416488 PCARE Health Risk Pathogenic —
RS2148416614 PCARE Health Risk Pathogenic —
RS2148416620 PCARE Health Risk Pathogenic —
RS2148416762 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS2148416787 PCARE Health Risk Conflicting classifications of pathogenicity —
RS2148416970 PCARE Health Risk Pathogenic —
RS2148417003 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2148417048 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148418008 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148418069 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148418171 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148418538 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS2148418732 CHRDL1 Health Risk Likely pathogenic Isolated congenital megalocornea, Isolated congenital megalocornea
RS2148419158 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2148419170 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148419206 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148419527 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2148419679 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148419938 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148419974 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148420687 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148421651 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148421666 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148421809 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2148422111 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148422718 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148423120 DMD Health Risk Pathogenic —
RS2148423696 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148424154 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148424175 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148425853 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2148426389 ADGRG1 Health Risk Pathogenic —
RS2148427081 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148427138 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148427870 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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