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
RS2480252690 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480252837 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480252872 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480257191 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480257419 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480257975 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480263091 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480264648 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480264715 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480267748 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480267762 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480275616 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480275642 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480280698 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480280716 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480284181 PROP1 Health Risk Likely pathogenic —
RS2480284225 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS2480284329 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS2480284654 PROP1 Health Risk Pathogenic —
RS2480284872 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS2480285098 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS2480287941 PROP1 Health Risk Pathogenic —
RS2480288389 PROP1 Health Risk Pathogenic —
RS2480288505 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS2480292680 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS2480292708 PROP1 Health Risk Pathogenic —
RS2480293034 PROP1 Health Risk Pathogenic —
RS2480298560 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480298658 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480298666 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480298774 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480304763 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480311448 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480319482 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480322589 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480322678 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480322800 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480322874 KDM3B Health Risk Pathogenic —
RS2480323087 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480323096 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480323492 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480334700 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480337940 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480338157 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480338161 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480341475 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480341739 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480350027 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480364062 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480364184 GRM6 Health Risk Pathogenic —
RS2480364218 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480366466 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480366502 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480370579 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480372740 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480381288 GRM6 Health Risk Pathogenic —
RS2480384074 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2480385304 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS2480388107 GRM6 Health Risk Pathogenic —
RS2480398393 GRM6 Health Risk Pathogenic —
RS2480398616 GRM6 Health Risk Pathogenic —
RS2480400620 GRM6 Health Risk Pathogenic —
RS2480408149 GRM6 Health Risk Pathogenic —
RS2480411247 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480414670 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480416655 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480433988 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2480441768 PDE6A Health Risk Pathogenic —
RS2480442709 NSD1 Health Risk Pathogenic —
RS2480443970 PDE6A Health Risk Likely pathogenic —
RS2480445417 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480445885 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480449646 NSD1 Health Risk Pathogenic —
RS2480454806 NSD1 Health Risk Pathogenic —
RS2480454936 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480455214 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480455419 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480455720 NSD1 Health Risk Pathogenic —
RS2480456198 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480456381 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480459128 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480461245 NSD1 Health Risk Pathogenic —
RS2480461526 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NSD1-related disorder
RS2480464337 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS2480464795 NSD1 Health Risk Pathogenic —
RS2480466649 NSD1 Health Risk Pathogenic —
RS2480469388 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480469743 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480472838 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2480490515 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS2480501321 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501382 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501444 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501508 FOXC1 Health Risk Likely pathogenic FOXC1-related disorder, FOXC1-related disorder
RS2480501511 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501614 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501835 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501865 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501881 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2480501985 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
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