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
RS1553957829 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1553957856 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957862 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957883 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957901 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957906 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553957907 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553957931 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957938 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553957939 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553958126 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958127 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958143 MMAA Health Risk Pathogenic —
RS1553958158 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958159 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958392 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958395 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553958417 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553958720 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1553959017 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS1553959024 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553959025 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553959113 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553959152 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1553960137 FRAS1 Health Risk Likely pathogenic —
RS1553960776 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553960778 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553960788 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553960793 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961332 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961343 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961487 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961510 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961516 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553961536 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961580 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961585 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961598 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961610 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961655 ZEB2 Health Risk Pathogenic —
RS1553961660 ZEB2 Health Risk Pathogenic —
RS1553961695 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961697 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553961702 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS1553961705 ZEB2 Health Risk Pathogenic —
RS1553961746 ZEB2 Health Risk Pathogenic —
RS1553961747 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553961749 ZEB2 Health Risk Pathogenic —
RS1553961777 ZEB2 Health Risk Pathogenic —
RS1553962048 ZEB2 Health Risk Pathogenic —
RS1553962069 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553962198 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553962493 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553963537 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553963960 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553963973 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553964145 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553964147 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553964158 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553965518 FGG Health Risk Likely pathogenic Inborn genetic diseases, Familial dysfibrinogenemia
RS1553965519 FGG Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS1553965868 LRBA Health Risk Likely pathogenic —
RS1553966356 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1553967481 SLC25A4 Health Risk Likely pathogenic —
RS1553969639 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1553970289 INTU Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome 17, Mohr syndrome
RS1553971826 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1553972275 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553974835 HAND2 Health Risk Pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1553983416 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553983667 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1553983844 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553986374 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS1553986377 NR3C2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, NR3C2-related disorder
RS1553987591 TTN Health Risk Likely pathogenic —
RS1553990438 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553990750 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS1553993921 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Sarcoma
RS1553994755 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1553994812 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1553994814 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1553994830 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1553994874 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553995241 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553995639 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553995945 OTULIN Health Risk Likely pathogenic —
RS1553996072 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1553996086 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1553996145 LRBA Health Risk Likely pathogenic —
RS1553996375 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1553996876 NAA15 Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder
RS1553997065 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1553997323 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1553997340 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS1553997365 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553997377 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1553997617 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1553997826 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553998199 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1553998229 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
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