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
RS2139026120 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139026230 TGM1 Health Risk Pathogenic —
RS2139027584 TGM1 Health Risk Pathogenic —
RS2139027688 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139027728 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139028390 TGM1 Health Risk Pathogenic —
RS2139045834 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139046115 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2139048200 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2139054241 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139056017 AP4S1 Health Risk Pathogenic —
RS2139062378 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139062776 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064139 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064218 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064443 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064475 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064528 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064592 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064649 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064757 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139064874 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139065161 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139065261 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139065347 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139065803 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067065 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067187 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067412 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067539 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067616 AP4S1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2139067696 AP4S1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2139067828 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067861 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067888 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139067969 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139068677 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139068965 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139070294 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139070482 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139070714 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139072643 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139072772 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139072795 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073064 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073155 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073551 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073732 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073840 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073925 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073933 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139073944 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139074041 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139074368 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2139075900 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139075930 ACVRL1 Health Risk Pathogenic —
RS2139076199 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2139076336 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2139076978 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139076990 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139077020 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139077046 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139083899 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139084154 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139084277 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139084307 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139084336 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139084385 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2139089146 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139089160 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2139090218 PRKD1 Health Risk Likely pathogenic Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
RS2139098086 AP4S1 Health Risk Likely pathogenic Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52
RS2139099848 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139102686 FANCM Health Risk Pathogenic —
RS2139103778 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139106255 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139106358 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139106532 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139107881 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS2139107979 PAX9 Health Risk Pathogenic Oligodontia, Hypodontia
RS2139107997 PAX9 Health Risk Pathogenic Oligodontia, Oligodontia
RS2139108031 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139108057 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139108140 PAX9 Health Risk Pathogenic Oligodontia, Oligodontia
RS2139108320 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139108430 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS2139108563 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS2139108573 PAX9 Health Risk Likely pathogenic Tooth agenesis, selective
RS2139108839 PAX9 Health Risk Pathogenic Hypodontia, PAX9-related disorder
RS2139108874 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139112502 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS2139132972 REC8 Health Risk Likely pathogenic Premature ovarian insufficiency, Premature ovarian insufficiency
RS2139146124 COL4A1 Health Risk Pathogenic —
RS2139146179 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS2139146298 COL4A1 Health Risk Pathogenic/Likely pathogenic Retinal arterial tortuosity, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS2139146303 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139148499 RCBTB1 Health Risk Pathogenic —
RS2139148607 RCBTB1 Health Risk Pathogenic —
RS2139149159 COL4A1 Health Risk Pathogenic —
RS2139149224 COL4A1 Health Risk Pathogenic Cerebral palsy, Cerebral palsy
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