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
RS2500627820 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500628432 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500628699 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500631443 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500674714 GRIP1 Health Risk Pathogenic —
RS2500681450 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500683218 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500684110 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS2500684184 CEP290 Health Risk Pathogenic —
RS2500723504 NR1H4 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2500723740 SPART Health Risk Likely pathogenic —
RS2500736926 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, See cases
RS2500737638 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500742395 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2500744133 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2500746572 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500752563 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS2500759351 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500761561 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500763272 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2500764599 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2500813056 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500813302 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500814936 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500815485 SMAD9 Health Risk Pathogenic Pulmonary hypertension, primary
RS2500815673 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2500817128 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500817276 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500820482 NR1H4 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2500829029 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500829215 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500838817 KDM2B Health Risk Likely pathogenic KDM2B-related disorder, KDM2B-related disorder
RS2500865783 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, CEP290-related disorder
RS2500865968 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2500866381 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500866434 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500866580 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500867184 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500899195 POU4F1 Health Risk Likely pathogenic Ataxia, intention tremor
RS2500901134 ZFYVE26 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2500902141 POU4F1 Health Risk Pathogenic Ataxia, intention tremor
RS2500933789 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500935910 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2500938116 CEP290 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2500956116 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500956859 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501017765 ABCA3 Health Risk Pathogenic ABCA3-related disorder, ABCA3-related disorder
RS2501035387 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2501035965 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, CEP290-related disorder
RS2501038652 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501040632 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2501043274 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501043847 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501049333 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501054131 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2501054222 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501090110 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501093691 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2501098066 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2501098597 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501106009 SLITRK6 Health Risk Likely pathogenic SLITRK6-related disorder, SLITRK6-related disorder
RS2501107669 SLITRK6 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2501124074 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501124491 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501124926 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501124958 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501135233 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501135864 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501136073 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501136089 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501136096 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501139084 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2501139315 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501139368 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501139693 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501139942 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2501140045 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2501140321 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501140694 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501140759 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501154632 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501154781 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501154926 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501155018 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501155081 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501155146 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501155182 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501155185 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501155398 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501155560 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2501155651 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501155694 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501155992 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501156038 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501156065 ACADS Health Risk Likely pathogenic ACADS-related disorder, ACADS-related disorder
RS2501156184 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501157103 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501157687 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2501157791 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2501187551 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
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