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
RS1734858651 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1734860676 COQ2 Health Risk Pathogenic/Likely pathogenic Coenzyme Q10 deficiency, primary
RS1734884330 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1734887425 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1734890180 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1734927527 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1734931275 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1734954603 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1734957331 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1734966566 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1734986168 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1734988578 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1734990759 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS1735002961 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1735008495 COQ2 Health Risk Pathogenic Multiple system atrophy, Multiple system atrophy
RS1735081763 FAT4 Health Risk Likely pathogenic Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS1735116193 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1735288987 PLK4 Health Risk Pathogenic —
RS1735294501 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS17352989 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Weill-Marchesani syndrome
RS1735303754 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1735304403 PLK4 Health Risk Likely pathogenic —
RS1735312842 HPGD Health Risk Pathogenic —
RS1735328958 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1735351912 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1735353141 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS17354992 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS1735565649 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1735567359 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1735626197 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1735642901 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1735691933 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1735710012 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Pheochromocytoma/paraganglioma syndrome 5
RS1735710103 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1735767573 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1735779936 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1735786455 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS1735791499 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1735798915 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1735848896 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1735877322 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1735893497 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1735952327 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1735963864 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia
RS1735964758 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1735999769 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS1736000365 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1736050138 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1736114396 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1736178477 PDE6B Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1736201319 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1736209 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS1736225856 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1736296921 CYP4V2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1736302165 CYP4V2 Health Risk Likely pathogenic —
RS1736332381 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1736332603 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1736334634 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1736337186 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1736337431 HADH Health Risk Uncertain significance/Uncertain risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1736344235 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1736367074 NEK1 Health Risk Likely pathogenic NEK1-related disorder, NEK1-related disorder
RS1736369601 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1736400607 MFSD8 Health Risk Likely pathogenic —
RS1736402440 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1736404481 PDE6B Health Risk Pathogenic —
RS1736425011 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS1736426982 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS1736442342 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1736569883 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1736606187 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1736631406 CYP4V2 Health Risk Pathogenic —
RS1736641565 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736679814 CYP4V2 Health Risk Likely pathogenic —
RS1736687730 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736795573 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1736797211 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1736840999 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1736861131 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736926873 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736928101 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736930552 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736934298 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736947312 PDE6B Health Risk Pathogenic —
RS1736955435 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736958050 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1737048333 TRIO Health Risk Pathogenic —
RS1737110583 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1737147925 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1737148739 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1737176330 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1737195067 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1737204592 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS1737229618 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS1737230745 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS1737305761 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1737312210 PDE6B Health Risk Pathogenic —
RS1737315492 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 40, Retinal dystrophy
RS1737323722 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS1737428529 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
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