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
RS2496102492 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496102548 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496103618 CAPRIN1 Health Risk Likely pathogenic —
RS2496106871 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496112378 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496112558 LTBP3 Health Risk Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2496113002 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496113290 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496113296 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496114380 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496115864 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2496117097 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2496117212 LTBP3 Health Risk Likely pathogenic LTBP3-related disorder, LTBP3-related disorder
RS2496118747 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496123723 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496124596 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496127907 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2496128459 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496129091 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2496129933 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496129949 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496130187 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496130523 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496131085 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11
RS2496131191 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2496133151 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2496135159 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Aniridia 1
RS2496136668 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11
RS2496136805 PAX6 Health Risk Likely pathogenic —
RS2496137038 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496137457 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Congenital myasthenic syndrome 11
RS2496137574 ERCC6 Health Risk Pathogenic —
RS2496137655 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496137948 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496137995 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496138250 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496138297 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496138391 ERCC6 Health Risk Pathogenic —
RS2496138465 ERCC6 Health Risk Pathogenic —
RS2496138515 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496138547 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11
RS2496138663 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496138678 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496138686 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496138843 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496138853 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2496139138 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496139507 ERCC6 Health Risk Pathogenic —
RS2496139686 ERCC6 Health Risk Pathogenic DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME
RS2496140099 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496140467 ERCC6 Health Risk Pathogenic —
RS2496141604 ERCC6 Health Risk Pathogenic —
RS2496141694 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496142607 ERCC6 Health Risk Pathogenic —
RS2496147524 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496149378 PAX6 Health Risk Likely pathogenic —
RS2496149640 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496149719 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496151517 PAX6 Health Risk Pathogenic Coloboma, ocular
RS2496152181 PAX6 Health Risk Pathogenic Coloboma, ocular
RS2496152990 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2496154682 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496155861 PAX6 Health Risk Likely pathogenic —
RS2496157331 HIKESHI Health Risk Likely pathogenic Hypomyelinating leukodystrophy 13, Hypomyelinating leukodystrophy 13
RS2496157537 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496159720 SPTBN2 Health Risk Pathogenic —
RS2496165017 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496165386 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496165880 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome
RS2496166571 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496166673 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496166703 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496167334 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496168975 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496169379 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496169948 CREB3L1 Health Risk Pathogenic —
RS2496173240 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496173288 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496173488 ERCC6 Health Risk Pathogenic —
RS2496173855 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496173866 ERCC6 Health Risk Pathogenic —
RS2496174268 ERCC6 Health Risk Pathogenic —
RS2496174697 PAX6 Health Risk Conflicting classifications of pathogenicity Iris coloboma, PAX6-related ocular dysgenesis
RS2496175259 ERCC6 Health Risk Pathogenic —
RS2496175399 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS2496175498 ERCC6 Health Risk Pathogenic —
RS2496175522 LTBP3 Health Risk Likely pathogenic LTBP3-related disorder, LTBP3-related disorder
RS2496176112 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS2496177262 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496178103 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496187186 KMT5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496187525 KMT5B Health Risk Pathogenic —
RS2496189023 KMT5B Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2496189670 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496191614 LRP5 Health Risk Pathogenic —
RS2496192280 LRP5 Health Risk Likely pathogenic —
RS2496195646 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2496202576 KMT5B Health Risk Likely pathogenic —
RS2496205950 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2496208006 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
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