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
RS2519792735 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792808 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792822 RPGR Health Risk Likely pathogenic —
RS2519792916 RPGR Health Risk Pathogenic —
RS2519792921 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519793023 RPGR Health Risk Likely pathogenic —
RS2519793036 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519793247 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519793270 RPGR Health Risk Likely pathogenic —
RS2519793295 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519793311 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Primary ciliary dyskinesia
RS2519793374 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519793388 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519793716 RPGR Health Risk Likely pathogenic —
RS2519793746 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2519793840 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2519794006 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519794124 OPHN1 Health Risk Pathogenic —
RS2519794257 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519794313 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519794381 RPGR Health Risk Likely pathogenic —
RS2519794592 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519794611 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519794693 RPGR Health Risk Likely pathogenic —
RS2519794763 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519794803 RPGR Health Risk Likely pathogenic RPGR-related disorder, RPGR-related disorder
RS2519794898 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519795016 RPGR Health Risk Likely pathogenic —
RS2519795129 RPGR Health Risk Likely pathogenic —
RS2519795148 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519795177 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2519795201 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519795233 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519795270 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519796610 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519796963 CASK Health Risk Likely pathogenic —
RS2519797246 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519797436 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519797482 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519797700 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2519797709 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2519797719 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2519797837 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519797858 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, GJB1-related disorder
RS2519797884 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Macular degeneration
RS2519797920 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519797987 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798019 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519798088 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798131 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519798151 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519798169 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519798270 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798302 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519798339 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798386 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798469 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2519798509 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798541 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS2519798559 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798571 RPGR Health Risk Likely pathogenic —
RS2519798585 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519798614 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519798675 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798732 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519798825 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519798838 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519798879 GJB1 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2519798907 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519798980 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519799028 RPGR Health Risk Likely pathogenic X-linked cone-rod dystrophy, X-linked cone-rod dystrophy
RS2519799076 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519799110 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2519799157 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519799321 OPHN1 Health Risk Likely pathogenic OPHN1-related disorder, OPHN1-related disorder
RS2519799380 OPHN1 Health Risk Pathogenic —
RS2519799405 IQSEC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519800627 AR Health Risk Likely pathogenic —
RS2519800864 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519800944 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519805643 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2519806194 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519806235 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519806288 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519806355 IQSEC2 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked 108
RS2519806377 RPGR Health Risk Likely pathogenic —
RS2519806555 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS2519806626 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519806711 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519806818 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519806849 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519806877 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519807297 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2519807886 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2519808318 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519808934 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519809669 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519809836 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519809935 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519810008 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
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