SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS796052063 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052064 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052065 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052066 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052067 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052068 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS796052069 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052070 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052071 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS796052072 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS796052074 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052077 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS796052078 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS796052079 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS796052081 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS796052082 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS796052084 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052085 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052086 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052087 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052088 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052089 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052090 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052091 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052092 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS796052093 COL12A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS796052094 COL12A1 Health Risk Pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS796052095 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS796052096 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS796052116 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS796052117 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS796052118 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS796052119 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS796052121 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS796052122 NAGLU Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS796052123 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS796052124 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS796052125 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS796052126 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS796052127 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS796052128 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, KIAA0586-related disorder
RS796052129 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS796052130 UFSP2 Health Risk Pathogenic Hip dysplasia, Beukes type
RS796052133 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS796052134 DBT Health Risk Pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS796052135 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS796052136 CFH Health Risk risk factor Hemolytic uremic syndrome, atypical
RS796052137 CFH Health Risk Pathogenic, low penetrance Hemolytic uremic syndrome, atypical
RS796052138 CFH Health Risk Pathogenic Factor H deficiency, Factor H deficiency
RS796052139 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS796052166 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052171 CAV3 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052196 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052197 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052198 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052199 AKAP9 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052200 AKAP9 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS796052212 UBE2T Health Risk Pathogenic Fanconi anemia complementation group T, Fanconi anemia complementation group T
RS796052213 SQSTM1 Health Risk Pathogenic Paget disease of bone 3, Paget disease of bone 3
RS796052215 POGZ Health Risk Likely pathogenic —
RS796052216 POGZ Health Risk Pathogenic —
RS796052217 POGZ Health Risk Pathogenic/Likely pathogenic Global developmental delay, Speech apraxia
RS796052219 POGZ Health Risk Likely pathogenic —
RS796052220 POGZ Health Risk Pathogenic —
RS796052221 POGZ Health Risk Likely pathogenic —
RS796052224 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS796052226 DDX3X Health Risk Pathogenic/Likely pathogenic Neurodevelopmental abnormality, Intellectual disability
RS796052227 DDX3X Health Risk Pathogenic —
RS796052230 DDX3X Health Risk Pathogenic Rare genetic intellectual disability, Intellectual disability
RS796052231 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS796052232 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS796052233 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS796052234 DDX3X Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS796052235 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS796052236 DDX3X Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS796052238 DDX3X Health Risk Pathogenic —
RS796052240 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS796052241 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS796052242 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS796052243 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
RS796052244 ADSL Health Risk Likely pathogenic —
RS796052246 ADSL Health Risk Pathogenic —
RS796052247 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS796052248 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS796052252 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS796052255 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS796052256 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS796052260 ALDH7A1 Health Risk Conflicting classifications of pathogenicity —
RS796052267 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS796052269 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS796052270 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, ALDH7A1-related disorder
RS796052271 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS796052277 ATP1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 98, Migraine
RS796052303 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS796052305 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS796052307 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA2-related disorder
RS796052312 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS796052314 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS796052317 CHRNA4 Health Risk Likely pathogenic —
RS796052318 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Tobacco addiction
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