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
RS2499620387 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499620795 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499621854 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499621897 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499623150 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623283 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623316 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499623372 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499623474 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623566 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499625095 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499625821 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499625897 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499625917 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499625924 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499625936 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499626022 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499626026 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499626087 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499626176 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499626201 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499626242 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS2499626313 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499626365 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499626437 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499636893 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499636931 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499636974 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499637040 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499665135 PHLDB1 Health Risk Pathogenic Osteogenesis imperfecta, type 23
RS2499676199 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499717946 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2499726960 CEP290 Health Risk Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2499731886 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499731924 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499739840 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499740973 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2499741182 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499741312 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499741922 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499742387 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499742919 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499744201 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499744612 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2499745673 CEP290 Health Risk Pathogenic CEP290-related disorder, CEP290-related disorder
RS2499745769 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499756229 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2499759755 MPDZ Health Risk Pathogenic —
RS2499773555 CUX2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 67
RS2499776647 HECTD4 Health Risk Pathogenic Neurodevelopmental disorder with seizures, spasticity
RS2499778482 IFT81 Health Risk Pathogenic —
RS2499783504 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499785368 GRIP1 Health Risk Pathogenic —
RS2499786519 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499787378 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499787857 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499790237 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499790308 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499793907 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499796876 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499797082 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499798316 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499798910 MED13L Health Risk Pathogenic —
RS2499799012 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2499805953 MYL2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2499815967 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499822062 MED13L Health Risk Likely pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499822871 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499825770 MED13L Health Risk Likely pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499826159 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS2499827000 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499827975 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499831679 MED13L Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2499836372 GRIP1 Health Risk Pathogenic —
RS2499838601 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499839762 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499839774 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499842261 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499842382 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Inborn genetic diseases
RS2499842648 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499842872 MED13L Health Risk Pathogenic —
RS2499843752 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499844187 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499846981 IGF1 Health Risk Likely pathogenic —
RS2499853126 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499854439 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499855165 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499855262 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499855740 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499855976 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499856135 MED13L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2499856672 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499856690 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499856777 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS2499856913 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499856919 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2499857175 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS2499857186 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499858354 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2499858442 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
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