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
RS2521931086 TCEAL1 Health Risk Likely pathogenic Neurodevelopmental disorder with gait disturbance, dysmorphic facies
RS2521932028 DOCK11 Health Risk Pathogenic Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
RS2521932919 AHDC1 Health Risk Likely pathogenic —
RS2521936399 ARID1A Health Risk Likely pathogenic —
RS2521936815 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2521941756 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521943150 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS2521943497 SBF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS2521944324 AHDC1 Health Risk Pathogenic AHDC1-related disorder, AHDC1-related disorder
RS2521945685 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521945695 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521947002 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521947117 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2521949809 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Prieto syndrome
RS2521949990 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521950956 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Nonpapillary renal cell carcinoma
RS2521951908 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2521952299 MT-TL1 Health Risk Likely pathogenic Mitochondrial disease, Primary mitochondrial disorders
RS2521954332 MT-TM Health Risk Likely pathogenic Mitochondrial disease, Primary mitochondrial disorders
RS2521954674 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS2521956863 MT-TN Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS2521957506 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2521958055 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2521958710 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521959483 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521959731 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521960362 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
RS2521960553 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521961310 MT-CO2 Health Risk Likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
RS2521961657 MT-TK Health Risk Likely pathogenic Mitochondrial disease, Primary mitochondrial disorders
RS2521963003 DMD Health Risk Likely pathogenic —
RS2521963688 STAG2 Health Risk Pathogenic —
RS2521964059 MT-ATP6 Health Risk Likely pathogenic Mitochondrial disease, Leigh syndrome
RS2521972014 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2521973024 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521974385 VPS13D Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2521976752 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521979430 PTCH2 Health Risk Pathogenic Gorlin syndrome, Basal cell carcinoma
RS2521980025 AHDC1 Health Risk Pathogenic —
RS2521980845 AHDC1 Health Risk Pathogenic —
RS2521981696 ARID1A Health Risk Pathogenic ARID1A-related disorder, ARID1A-related disorder
RS2521983222 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2521993448 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2521993517 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2521993564 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2521995500 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2521996795 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2521999900 ARID1A Health Risk Pathogenic —
RS2522000606 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522000853 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522001321 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522002760 AHDC1 Health Risk Pathogenic —
RS2522009301 AHDC1 Health Risk Pathogenic —
RS2522010204 SBF1 Health Risk Likely pathogenic SBF1-related disorder, SBF1-related disorder
RS2522024333 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522024746 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522029781 AHDC1 Health Risk Pathogenic —
RS2522032710 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522034049 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2522037796 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522038270 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522039523 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522039598 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522040167 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522040297 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522041276 ARID1A Health Risk Pathogenic ARID1A-related disorder, ARID1A-related disorder
RS2522041945 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522042642 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522043195 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522043714 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522044176 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522044337 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522045043 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522045317 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS2522045420 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522045814 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2522046154 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522046319 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522047023 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS2522047206 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522047581 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522047825 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522048081 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522048158 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522048334 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522048372 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522048399 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522048763 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522048965 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522048985 HUWE1 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2522049286 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522049393 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522050035 ARID1A Health Risk Pathogenic —
RS2522050550 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522051180 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522051281 MECP2 Health Risk Pathogenic See cases, See cases
RS2522051695 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522051892 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522051967 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522052671 MECP2 Health Risk Likely pathogenic Rett syndrome, MECP2-related disorder
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