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
RS2519780631 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, X-linked
RS2519780655 RPGR Health Risk Likely pathogenic —
RS2519780828 RPGR Health Risk Likely pathogenic X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1
RS2519780839 RPGR Health Risk Likely pathogenic X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1
RS2519780933 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519781120 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519781357 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519781820 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519782634 RPGR Health Risk Pathogenic —
RS2519782964 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1
RS2519783212 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519783360 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519783409 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519783585 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519783609 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519783670 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519784068 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519784160 OPHN1 Health Risk Pathogenic —
RS2519784367 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519784531 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519784620 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519784757 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2519784773 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2519784938 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519785175 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519785259 RPGR Health Risk Likely pathogenic —
RS2519785746 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519785831 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519785890 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519785945 RPGR Health Risk Pathogenic —
RS2519786005 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519786021 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519786220 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519786353 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519786494 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519786858 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519786964 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519787093 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787265 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787339 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787344 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519787370 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787400 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787455 RPGR Health Risk Pathogenic —
RS2519787528 RPGR Health Risk Pathogenic Retinal dystrophy, RPGR-related retinopathy
RS2519787589 RPGR Health Risk Likely pathogenic —
RS2519787728 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519787762 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519788045 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS2519788643 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519788652 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Retinitis pigmentosa 3
RS2519788713 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519788765 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519788844 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519788962 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519789004 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519789017 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519789073 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2519789277 RPGR Health Risk Pathogenic —
RS2519789292 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519789485 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519789706 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2519789861 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519789871 RPGR Health Risk Likely pathogenic —
RS2519789982 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy, Primary ciliary dyskinesia
RS2519790060 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519790385 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519790473 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519790535 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519790541 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519790630 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519790671 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519790697 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519790827 RPGR Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS2519790959 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2519790975 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791019 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791076 RPGR Health Risk Likely pathogenic —
RS2519791125 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791194 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791293 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791486 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791561 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS2519791604 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791671 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy, Primary ciliary dyskinesia
RS2519791783 RPGR Health Risk Likely pathogenic —
RS2519791875 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791904 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519791945 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2519792048 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519792080 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792150 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792372 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792385 RPGR Health Risk Pathogenic —
RS2519792436 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519792465 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519792575 RPGR Health Risk Pathogenic —
RS2519792588 RPGR Health Risk Likely pathogenic —
RS2519792649 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519792716 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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