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
RS2067123964 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067124037 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067124341 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067124487 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2067124493 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067126569 RPGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS2067127275 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2067127718 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067128124 RPGR Health Risk Likely pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS2067131272 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2067131596 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067134254 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067134264 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067134394 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067134697 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067134850 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067135200 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067135227 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067135666 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067135965 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067136009 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067136565 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2067136586 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067136971 NF1 Health Risk Pathogenic/Likely pathogenic RASopathy, Neurofibromatosis
RS2067137147 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067137196 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2067137289 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067137324 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067137517 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067137547 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067137617 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067137759 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067137878 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067138110 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067138342 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067138439 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS2067138719 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067140465 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067140471 RPGR Health Risk Pathogenic Macular degeneration, X-linked atrophic
RS2067140574 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2067141195 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067141225 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067141601 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067141977 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067142076 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067142295 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067142341 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067142551 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067142728 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067142764 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067144007 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067144197 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067144319 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067145586 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2067146007 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067146202 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067148119 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067149319 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2067151262 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2067151490 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067151807 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067154422 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067155200 RPGR Health Risk Pathogenic —
RS2067157388 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067159265 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067159456 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067160069 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2067160273 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067161139 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067161460 RPGR Health Risk Pathogenic —
RS2067163605 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067164096 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067164990 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067166789 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067169164 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067169934 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067170858 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 3
RS2067172385 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067172824 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067174697 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067175855 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2067176160 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067176379 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067177281 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067178120 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067179538 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 3
RS2067179633 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS2067179881 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067180233 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067180395 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2067180593 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067182354 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067182636 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067182990 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067183162 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067183876 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS2067184023 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067184362 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067184831 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067184984 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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