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
RS183336802 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1833371664 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS183342534 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS1833438306 OPTN Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS1833442352 KCNT1 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1833451208 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS183345423 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183345998 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS1833482631 COL27A1 Health Risk Likely pathogenic —
RS183349235 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS183350210 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS183354017 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS183355578 RFX6 Health Risk Pathogenic —
RS183355603 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1833579629 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1833594325 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS183359489 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS1833598160 GRIN1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1833598892 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1833614590 GRIN1 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1833614725 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1833615155 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1833616245 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1833621434 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1833621750 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1833622746 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS183362306 KANK1 Health Risk Conflicting classifications of pathogenicity KANK1-related disorder, KANK1-related disorder
RS183362649 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1833635820 GRIN1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS1833643967 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS183367929 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS1833698471 GRIN1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS183372450 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS183373024 PRNCR1 Health Risk association Familial prostate cancer, Familial prostate cancer
RS183377804 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1833814168 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS183383266 SAG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1833833144 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS1833833523 LAMC3 Health Risk Likely pathogenic LAMC3-related disorder, LAMC3-related disorder
RS183387994 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS183390670 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases
RS183392900 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS1833929015 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS1833941275 LAMC3 Health Risk Pathogenic —
RS183394803 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1833955862 UBAP1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia 80, autosomal dominant
RS183395856 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS183396486 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS183398279 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANKRD26-related disorder
RS183398286 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS183398940 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1833990360 LAMC3 Health Risk Pathogenic —
RS1833994284 WDR37 Health Risk Conflicting classifications of pathogenicity Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
RS1834041329 IARS1 Health Risk Pathogenic —
RS1834044297 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS183406496 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS1834105260 COL27A1 Health Risk Conflicting classifications of pathogenicity —
RS1834107819 COL27A1 Health Risk Likely pathogenic —
RS183412440 SAG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183413469 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS183413880 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS183415577 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS183419371 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS183427173 KCNE2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 6
RS183431253 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1D
RS1834346707 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834347552 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834348631 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834349280 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834349710 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834349844 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834350042 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834351540 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS183435240 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS183435741 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS1834359656 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834371028 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834373127 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834375493 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834375618 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834382153 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834414619 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1834422689 LAMC3 Health Risk Pathogenic —
RS1834422790 LAMC3 Health Risk Pathogenic —
RS1834431047 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS1834431706 ANKS6 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS183443558 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1834464693 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1834465099 VPS13A Health Risk Pathogenic —
RS183449855 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS183455339 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS183455719 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS183456651 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Kostmann syndrome
RS1834577610 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1834584602 VPS13A Health Risk Likely pathogenic —
RS1834600064 NUP214 Health Risk Likely pathogenic —
RS183460108 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2A (Zellweger)
RS1834606114 UPF2 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1834650809 LINS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS183465983 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
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