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
RS2499859881 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499860162 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499860456 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2499873877 LRRK2 Health Risk Pathogenic Interstitial pulmonary disease, Interstitial pulmonary disease
RS2499874839 MED13L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2499875454 MED13L Health Risk Pathogenic —
RS2499880851 HECTD4 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with seizures
RS2499888150 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499888400 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499889148 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499901614 MED13L Health Risk Likely pathogenic —
RS2499906294 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499906615 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499907349 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499907395 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499907989 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2499908060 HECTD4 Health Risk Likely pathogenic Neurodevelopmental disorder with seizures, spasticity
RS2499908135 HECTD4 Health Risk Pathogenic Neurodevelopmental disorder with seizures, spasticity
RS2499908343 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499910206 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499910412 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499911272 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499911513 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499912120 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499912315 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS2499913247 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499913444 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499914261 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499921727 IFT81 Health Risk Pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
RS2499922365 IFT81 Health Risk Pathogenic —
RS2499924697 MED13L Health Risk Pathogenic —
RS2499931368 MED13L Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2499931468 MED13L Health Risk Pathogenic Global developmental delay, Dextro-looped transposition of the great arteries
RS2499932052 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499941131 MED13L Health Risk Likely pathogenic —
RS2499941147 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499943377 MED13L Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2499943809 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499946313 MED13L Health Risk Pathogenic —
RS2499947744 MED13L Health Risk Likely pathogenic —
RS2499954741 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499955544 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2499955654 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499956168 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499956196 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499956371 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499956501 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499956505 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499956762 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499957266 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS2499957344 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499957970 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499958316 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499958555 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2499959456 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499959771 SIRT4;RNU4-1;RNU4-2 Health Risk Pathogenic RNU4-2-associated neurodevelopmental disorder, RNU4-2-related condition
RS2499960522 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499961754 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2499961991 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2499964381 MED13L Health Risk Pathogenic —
RS2499969554 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499969575 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499969945 MED13L Health Risk Pathogenic —
RS2499972252 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499973191 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499973550 HNF1A Health Risk Pathogenic —
RS2499973600 HNF1A Health Risk Pathogenic —
RS2499973970 HNF1A Health Risk Pathogenic —
RS2499974370 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499974537 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499974587 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499976292 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS2499977965 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS2499982456 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS2499986572 CEP290 Health Risk Likely pathogenic —
RS2499987411 HNF1A Health Risk Pathogenic —
RS2499987472 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2499987474 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499987520 HNF1A Health Risk Pathogenic —
RS2499987564 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499987570 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499987661 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499987775 HNF1A Health Risk Pathogenic —
RS2499987848 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2499987988 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499988006 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2499988736 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499989379 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499990885 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499991573 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499995510 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995544 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995569 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995613 HNF1A Health Risk Pathogenic —
RS2499995666 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995670 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995695 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995717 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2499995743 HNF1A Health Risk Likely pathogenic HNF1A-related disorder, HNF1A-related disorder
RS2499995799 HNF1A Health Risk Pathogenic —
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