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
RS1596501163 PKD1 Health Risk Likely pathogenic —
RS1596501702 PKD1 Health Risk Likely pathogenic —
RS1596501760 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596503384 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596505517 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1596512492 PKD1 Health Risk Pathogenic —
RS1596512729 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596513253 CIITA Health Risk Likely pathogenic MHC class II deficiency, Rheumatoid arthritis
RS1596513913 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS1596514027 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596514559 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS1596514864 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596515137 PKD1 Health Risk Likely pathogenic —
RS1596515144 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596515638 SLX4 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1596519854 SLX4 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1596519879 SLX4 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1596520443 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group P
RS1596520985 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596521250 PKD1 Health Risk Pathogenic —
RS1596521826 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596522300 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1596522356 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1596522411 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596522636 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596523677 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596525695 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596526915 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1596526976 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1596527370 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596527579 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596527744 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596528731 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1596534281 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS1596536505 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596536546 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596536873 PKD1 Health Risk Likely pathogenic Renal insufficiency, Renal insufficiency
RS1596538804 PKD1 Health Risk Likely pathogenic —
RS1596548114 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596549676 STUB1 Health Risk Likely pathogenic —
RS1596550396 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596551138 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596552335 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1596553527 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596555170 PKD1 Health Risk Pathogenic —
RS1596555413 PKD1 Health Risk Likely pathogenic —
RS1596555896 PKD1 Health Risk Likely pathogenic —
RS1596556375 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596556800 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596556896 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596556924 CLN3 Health Risk Likely pathogenic —
RS1596557065 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596557266 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596557533 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596557742 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596558405 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596560540 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596560944 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1596561773 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596561934 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1596563048 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1596563657 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596566156 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596566550 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596569673 HBA2 Health Risk Pathogenic —
RS1596570041 HBA2 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS1596570272 HBA2 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS1596570339 HBA2 Health Risk Pathogenic —
RS1596573335 HBA1 Health Risk Pathogenic/Likely pathogenic Erythrocytosis, familial
RS1596573477 HBA1 Health Risk Pathogenic alpha Thalassemia, Hemoglobin H disease
RS1596574774 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596574987 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596575646 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596575921 PKD1 Health Risk Likely pathogenic —
RS1596580483 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596582948 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596586969 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596587476 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596588606 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596588978 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596590005 PKD1 Health Risk Likely pathogenic —
RS1596590574 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596591051 BNC1 Health Risk Pathogenic Premature ovarian failure 16, Premature ovarian failure 16
RS1596591955 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596596355 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1596603769 GNPTG Health Risk Likely pathogenic Mucolipidosis, Mucolipidosis
RS1596605496 ARMC5 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS1596616722 CIITA Health Risk Likely pathogenic —
RS1596646372 PCDH12 Health Risk Pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia
RS1596646556 PCDH12 Health Risk Pathogenic —
RS1596649191 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS1596667741 SRCAP Health Risk Pathogenic —
RS1596667777 SRCAP Health Risk Likely pathogenic Moderate intellectual disability, Moderate intellectual disability
RS1596669232 SRCAP Health Risk Pathogenic —
RS1596669503 SRCAP Health Risk Likely pathogenic —
RS1596669865 SRCAP Health Risk Likely pathogenic —
RS1596675237 MYH11 Health Risk Conflicting classifications of pathogenicity Esophageal and colonic dysmotility, Aortic aneurysm
RS1596678798 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1596680941 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1596681011 SETD1A Health Risk Conflicting classifications of pathogenicity —
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