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
RS2499031526 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2499036272 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499037879 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499038278 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499038662 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499038830 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499038919 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499039220 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499039906 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499039928 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499133668 RAP1B Health Risk Pathogenic Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
RS2499143529 RAP1B Health Risk Pathogenic Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
RS2499150283 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS2499156703 CNOT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2499184191 KITLG Health Risk Likely pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive
RS2499184366 KITLG Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69
RS2499213337 NUP107 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2499274206 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2499292213 CNTN1 Health Risk Likely pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2499311959 FGD1 Health Risk Pathogenic Inborn genetic diseases, FGD1-related disorder
RS2499313829 LRRC51;LRTOMT Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2499322515 LRP6 Health Risk Pathogenic —
RS2499339388 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499339598 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2499339724 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499340672 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499342693 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499343371 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499368392 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499368432 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499368529 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499368756 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499370007 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499370043 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499379582 SLC11A2 Health Risk Likely pathogenic —
RS2499426087 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499429479 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499432719 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2499443322 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499444300 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Joubert syndrome
RS2499444567 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499445099 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499445529 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499446500 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499469346 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499469543 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499470143 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499472817 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2499473051 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499488629 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2499495824 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499496098 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499520024 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2499521013 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499521071 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521340 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521354 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521460 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499526690 PHLDB1 Health Risk Pathogenic Osteogenesis imperfecta, type 23
RS2499527666 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2499528307 CEP290 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2499542475 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499542511 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499542595 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499542607 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499546405 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499546518 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499553350 KERA Health Risk Pathogenic/Likely pathogenic —
RS2499554758 SHANK2 Health Risk Likely pathogenic Autism, susceptibility to
RS2499568269 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499570339 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499571369 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS2499571894 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2499572404 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499595696 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499596186 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499597589 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499609864 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499611116 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499613967 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499613973 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499614156 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499614160 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499614171 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499614176 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499614247 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499615063 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499615095 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499615219 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499615233 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499616926 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2499617326 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499617336 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499617367 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2499617642 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2499617680 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Meckel syndrome
RS2499618420 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2499619599 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2499619686 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2499620281 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
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