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
RS2487083005 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487083124 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2487083724 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487084077 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487089011 HGSNAT Health Risk Likely pathogenic —
RS2487089692 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487089731 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS2487090280 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487090418 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487096121 SLC20A2 Health Risk Pathogenic —
RS2487096513 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487096929 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487096952 HGSNAT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487104940 PLAG1 Health Risk Likely pathogenic PLAG1-related disorder, PLAG1-related disorder
RS2487114607 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487117774 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487118434 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487118957 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2487119248 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2487125629 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2487138087 SLC39A14 Health Risk Likely pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS2487140003 LIMK1 Health Risk Pathogenic Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy
RS2487143337 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147387 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147481 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147566 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147613 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147705 TTPA Health Risk Pathogenic —
RS2487147925 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487147948 TTPA Health Risk Pathogenic —
RS2487147973 TTPA Health Risk Pathogenic —
RS2487153916 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487154014 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487154105 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487160901 ANK1 Health Risk Likely pathogenic —
RS2487161140 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487161296 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487161354 ANK1 Health Risk Pathogenic —
RS2487161455 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487161473 ANK1 Health Risk Likely pathogenic —
RS2487164970 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487165321 TTPA Health Risk Pathogenic —
RS2487165508 TTPA Health Risk Pathogenic —
RS2487165803 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487165831 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487165874 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487176728 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487183134 SLC20A2 Health Risk Pathogenic —
RS2487190152 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487190488 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487191388 SLC20A2 Health Risk Pathogenic —
RS2487191561 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487191620 SLC20A2 Health Risk Pathogenic —
RS2487191870 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487191885 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487192220 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487199918 TTPA Health Risk Likely pathogenic —
RS2487199926 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487200395 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487200887 TTPA Health Risk Pathogenic —
RS2487201123 TTPA Health Risk Pathogenic —
RS2487201178 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487201275 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2487201425 TTPA Health Risk Pathogenic —
RS2487206621 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487230219 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487257832 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487261863 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487262838 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487263004 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487263636 CHD7 Health Risk Pathogenic —
RS2487264136 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487264288 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487266223 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2487266366 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487267049 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487268115 CHD7 Health Risk Pathogenic —
RS2487269253 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2487270254 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2487273021 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487274727 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487275013 CHD7 Health Risk Pathogenic See cases, See cases
RS2487278624 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS2487279652 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487281631 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487283883 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487284308 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487285284 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487285824 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487289295 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487294702 ERLIN2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2487296166 SLC20A2 Health Risk Pathogenic —
RS2487297016 SLC20A2 Health Risk Pathogenic —
RS2487299097 SLC20A2 Health Risk Pathogenic —
RS2487305222 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2487305557 ERLIN2 Health Risk Pathogenic Spastic paraplegia 18a, autosomal dominant
RS2487326803 ERLIN2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2487332031 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS2487359201 PLPBP Health Risk Pathogenic —
RS2487359546 PLPBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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