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
RS2513503710 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2513503821 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513503912 CACNA1A Health Risk Pathogenic —
RS2513508732 PEPD Health Risk Likely pathogenic —
RS2513508907 PEPD Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2513512123 CACNA1A Health Risk Likely pathogenic CACNA1A-related disorder, CACNA1A-related disorder
RS2513512273 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513517350 ERF Health Risk Pathogenic Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS2513520556 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513520661 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513524236 PEPD Health Risk Pathogenic —
RS2513524258 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513524445 PEPD Health Risk Pathogenic —
RS2513525682 ERF Health Risk Likely pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2513525725 ERF Health Risk Pathogenic Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS2513525830 ERF Health Risk Likely pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS2513526292 PEPD Health Risk Pathogenic —
RS2513527846 TCF3 Health Risk Likely pathogenic —
RS2513536052 ERF Health Risk Pathogenic Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS2513557082 SLC7A9 Health Risk Likely pathogenic SLC7A9-related disorder, SLC7A9-related disorder
RS2513572254 APOC2 Health Risk Pathogenic —
RS2513572308 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS2513582014 MAG Health Risk Likely pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS2513589785 CEACAM16 Health Risk Pathogenic —
RS2513590118 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513591500 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS2513591753 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS2513598932 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513599364 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513599588 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS2513601109 MAG Health Risk Likely pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS2513602574 CCDC8 Health Risk Likely pathogenic 3M syndrome 3, 3M syndrome 3
RS2513603113 CCDC8 Health Risk Conflicting classifications of pathogenicity 3M syndrome 3, 3M syndrome 3
RS2513603652 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513603665 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513605675 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513605758 ETHE1 Health Risk Pathogenic —
RS2513605883 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513608437 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS2513609430 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609434 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609504 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609510 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609529 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609656 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609715 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS2513609768 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609859 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513609886 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS2513609956 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS2513612309 CIC Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513617524 SLC7A9 Health Risk Likely pathogenic SLC7A9-related disorder, SLC7A9-related disorder
RS2513617759 SLC7A9 Health Risk Pathogenic —
RS2513621738 DIAPH1 Health Risk Pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS2513627688 DIAPH1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2513629289 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513629530 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513629589 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513629634 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513630063 WDR62 Health Risk Pathogenic —
RS2513630394 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513630522 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631162 FCHO1 Health Risk Likely pathogenic FCHO1-related disorder, FCHO1-related disorder
RS2513631545 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631599 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631633 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631654 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631669 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631693 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631762 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513631822 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2513636767 TCF4 Health Risk Pathogenic —
RS2513641889 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS2513646355 CALM3 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2513648734 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS2513649406 WDR62 Health Risk Pathogenic —
RS2513659434 TCF3 Health Risk Pathogenic —
RS2513664406 TCF3 Health Risk Pathogenic —
RS2513666004 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2513666064 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2513666127 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513666225 TCF3 Health Risk Pathogenic —
RS2513666238 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2513667116 RPS19 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS2513667169 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS2513667196 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513667328 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513667411 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513667436 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513667441 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, RPS19-related disorder
RS2513682836 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513683230 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513683320 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2513683427 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513683446 MIR6797;RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS2513685020 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS2513685131 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2513688329 RPS19 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS2513688334 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS2513690519 GRIN2D Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 46
« Prev 1 ... 2256 2257 2258 2259 2260 2261 2262 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →