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
RS2480502053 FOXC1 Health Risk Pathogenic —
RS2480502065 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502104 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502130 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502393 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502418 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502469 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502495 FOXC1 Health Risk Likely pathogenic —
RS2480502500 FOXC1 Health Risk Likely pathogenic FOXC1-related disorder, Anterior segment dysgenesis 3
RS2480502524 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502731 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502742 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502767 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502800 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480502820 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504227 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504244 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504308 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504570 FOXC1 Health Risk Likely pathogenic FOXC1-related disorder, FOXC1-related disorder
RS2480504690 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504901 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480504935 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480505023 FOXC1 Health Risk Likely pathogenic —
RS2480505086 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480505189 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face
RS2480505369 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480505650 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480505702 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480506067 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480506120 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480506700 FOXC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Anterior segment dysgenesis 3
RS2480507296 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480507628 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480508084 ITK Health Risk Likely pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS2480551478 ITK Health Risk Likely pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS2480557976 PDE6A Health Risk Likely pathogenic —
RS2480559806 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS2480559834 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS2480564545 PDE6A Health Risk Pathogenic —
RS2480565076 PDE6A Health Risk Pathogenic —
RS2480565963 TBC1D7 Health Risk Likely pathogenic —
RS2480574461 PDE6A Health Risk Pathogenic —
RS2480577993 PDE6A Health Risk Likely pathogenic PDE6A-related disorder, PDE6A-related disorder
RS2480580458 NSD1 Health Risk Pathogenic —
RS2480581026 NSD1 Health Risk Pathogenic —
RS2480581122 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480589655 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS2480589765 DNAJC21 Health Risk Likely pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480589884 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480590275 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480590542 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480591221 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480591628 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480592535 MSX2 Health Risk Conflicting classifications of pathogenicity Cranium bifidum occultum, Inborn genetic diseases
RS2480597096 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480597386 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480597949 DNAJC21 Health Risk Pathogenic —
RS2480598071 ITK Health Risk Pathogenic —
RS2480599117 DNAJC21 Health Risk Pathogenic —
RS2480603008 MSX2 Health Risk Pathogenic Craniosynostosis 2, Craniosynostosis 2
RS2480610077 PDE6A Health Risk Pathogenic —
RS2480610173 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS2480610422 PDE6A Health Risk Pathogenic —
RS2480614303 NSD1 Health Risk Pathogenic —
RS2480614730 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480618246 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS2480618469 F13A1 Health Risk Likely pathogenic —
RS2480618478 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS2480631479 DNAJC21 Health Risk Likely pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2480641681 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480641733 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480651992 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS2480663838 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480664088 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480664753 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS2480664913 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480676071 PDE6A Health Risk Pathogenic —
RS2480678697 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480679636 NSD1 Health Risk Pathogenic —
RS2480679840 NSD1 Health Risk Pathogenic —
RS2480685391 PDE6A Health Risk Pathogenic —
RS2480693529 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS2480693538 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS2480693817 H1-4 Health Risk Pathogenic —
RS2480693825 H1-4 Health Risk Pathogenic H1-4-related disorder, H1-4-related disorder
RS2480712420 PDE6A Health Risk Pathogenic —
RS2480719857 NSD1 Health Risk Likely pathogenic —
RS2480720249 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480720376 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480729692 NSD1 Health Risk Pathogenic See cases, See cases
RS2480730115 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480730192 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480730450 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480749096 NSD1 Health Risk Likely pathogenic NSD1-related disorder, NSD1-related disorder
RS2480749099 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480749805 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480749822 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480758383 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS2480770046 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS2480770174 SLC26A2 Health Risk Likely pathogenic —
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