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
RS2067185063 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067185505 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2067185564 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067186077 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067186293 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067186632 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS2067186762 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067186801 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067187127 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2067187364 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067187424 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067187550 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067187618 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067187668 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067188031 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067188111 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2067188114 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067188361 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067188459 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067188667 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067188951 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067189266 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067189436 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067189705 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067189853 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067190364 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067190922 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067190976 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2067191154 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2067191335 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067191541 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067191635 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067192032 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067193056 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067193155 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067193335 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067193414 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067193558 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067193671 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067193761 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067193857 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067194538 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067194648 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067194747 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067194816 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067194846 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067195486 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067195581 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067196140 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067196699 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067196800 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067197219 CASK Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2067197487 CASK Health Risk Pathogenic —
RS2067198376 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067199347 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS2067200470 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067201139 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067201253 RPGR Health Risk Pathogenic —
RS2067202860 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067203546 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067211703 TCTN1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Meckel-Gruber syndrome
RS2067215010 RPGR Health Risk Pathogenic Retinal dystrophy, RPGR-related retinopathy
RS2067216516 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067217104 ITPA Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 35
RS2067217398 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067217662 RPGR Health Risk Pathogenic Retinal dystrophy, RPGR-related retinopathy
RS2067217874 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067218363 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067221066 RPGR Health Risk Likely pathogenic Retinal dystrophy, RPGR-related retinopathy
RS2067258421 JAG1 Health Risk Pathogenic —
RS2067265104 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067267431 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067268275 JAG1 Health Risk Pathogenic Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation
RS2067268487 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067270959 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067273607 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067274453 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067277129 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067278577 IDS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS2067278631 RPGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067293664 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Ovarian serous cystadenocarcinoma
RS2067296758 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067297301 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067300184 JAG1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067301859 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067320699 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067321711 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067324506 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS2067325167 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067328461 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067336398 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067337118 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067339335 EXOC7 Health Risk Pathogenic Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
RS2067342745 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2067343280 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS2067346904 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067347395 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067347502 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067370892 ITPA Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 35
RS2067371776 ATRX Health Risk Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
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