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
RS1555950494 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555950495 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 19
RS1555950665 DDX3X Health Risk Pathogenic Inborn genetic diseases, DDX3X-related disorder
RS1555950676 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1555951141 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1555951142 CDKL5 Health Risk Pathogenic —
RS1555951146 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1555951288 MAOA Health Risk Pathogenic —
RS1555951715 OPHN1 Health Risk Likely pathogenic —
RS1555951858 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555951954 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555951958 CDKL5 Health Risk Pathogenic CDKL5 disorder, CDKL5 disorder
RS1555951981 CDKL5 Health Risk Pathogenic Inborn genetic diseases, CDKL5 disorder
RS1555951991 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1555951993 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1555952013 CDKL5 Health Risk Conflicting classifications of pathogenicity West syndrome, Developmental and epileptic encephalopathy
RS1555952015 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555952052 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555952063 CDKL5 Health Risk Pathogenic —
RS1555952078 CDKL5 Health Risk Likely pathogenic West syndrome, West syndrome
RS1555952101 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555952163 CDKL5 Health Risk Pathogenic —
RS1555952648 OPHN1 Health Risk Pathogenic —
RS1555952659 DDX3X Health Risk Likely pathogenic —
RS1555952685 DDX3X Health Risk Pathogenic —
RS1555952710 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555952732 CDKL5 Health Risk Pathogenic Inborn genetic diseases, CDKL5 disorder
RS1555953039 DDX3X Health Risk Pathogenic —
RS1555953149 DDX3X Health Risk Pathogenic —
RS1555953158 DDX3X Health Risk Likely pathogenic —
RS1555953166 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555953169 DDX3X Health Risk Pathogenic —
RS1555953333 DDX3X Health Risk Pathogenic —
RS1555953398 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1555953420 DDX3X Health Risk Pathogenic —
RS1555953482 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555953488 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1555953527 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1555953548 DDX3X Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1555953550 DDX3X Health Risk Likely pathogenic —
RS1555953796 DDX3X Health Risk Likely pathogenic Medulloblastoma, Intellectual disability
RS1555953819 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1555953882 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555953894 DDX3X Health Risk Pathogenic —
RS1555954069 PCNT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555954074 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555954078 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555954081 DDX3X Health Risk Pathogenic —
RS1555954105 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1555954122 DDX3X Health Risk Pathogenic —
RS1555954154 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1555954284 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1555954287 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555954380 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1555954414 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555954737 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555954752 CDKL5 Health Risk Likely pathogenic West syndrome, West syndrome
RS1555954786 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1555955061 CHM Health Risk Likely pathogenic Retinal dystrophy, Abnormality of the eye
RS1555955237 CDKL5 Health Risk Pathogenic —
RS1555955268 CDKL5 Health Risk Likely pathogenic —
RS1555955290 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1555955296 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1555955827 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555956229 STS Health Risk Pathogenic —
RS1555956600 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1555957134 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555957146 KDM6A Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555957162 KDM6A Health Risk Likely pathogenic —
RS1555957756 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1555958073 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1555959367 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1555959573 FAAH2 Health Risk Pathogenic —
RS1555959737 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1555960066 DLG3 Health Risk Pathogenic Intellectual disability, X-linked 90
RS1555961220 RPGR Health Risk Likely pathogenic Macular dystrophy, Macular dystrophy
RS1555961350 RPGR Health Risk Likely pathogenic —
RS1555961440 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1555961491 RPGR Health Risk Likely pathogenic —
RS1555961509 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS1555961624 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555961677 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1555961704 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, RPGR-related retinopathy
RS1555961787 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555961832 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1555961849 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555961852 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1555961964 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555962301 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1555962470 CACNA1C Health Risk Likely pathogenic CACNA1C-related disorder, CACNA1C-related disorder
RS1555962581 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1555962831 RPGR Health Risk Pathogenic Retinitis pigmentosa, RPGR-related retinopathy
RS1555962965 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555963392 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1555964122 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555964133 RPGR Health Risk Pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1555964576 RPGR Health Risk Pathogenic —
RS1555965081 RPGR Health Risk Pathogenic —
RS1555965107 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS1555965653 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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