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
RS2544730531 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544730849 CCDC88A Health Risk Likely pathogenic —
RS2544731000 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544732273 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544732354 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544733084 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544733268 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544733362 DACT1 Health Risk Pathogenic Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS2544733475 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544733512 PKD1 Health Risk Likely pathogenic —
RS2544733556 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544736793 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544737008 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544737112 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544737764 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544737997 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2544741352 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544742014 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544742591 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544742790 PKD1 Health Risk Likely pathogenic —
RS2544742995 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544743555 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544743893 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544744105 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544744207 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544744482 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544744667 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544745075 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544745312 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544745346 PKD1 Health Risk Pathogenic PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease, PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
RS2544745408 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544745465 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544745612 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544745650 PKD1 Health Risk Pathogenic —
RS2544747443 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2544747516 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544747563 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544747849 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544747869 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544747871 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544747909 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544748073 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2544749725 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544749730 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544749809 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544749912 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544749921 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544749971 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544750005 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544750017 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544750037 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544750159 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544750196 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544750204 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544752143 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544752296 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2544753081 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753100 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544753151 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753178 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544753194 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753209 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753236 CCDC88A Health Risk Likely pathogenic —
RS2544753242 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544753293 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753339 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544753552 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544753646 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753764 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2544753794 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544753930 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2544753973 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544754093 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544754097 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544754124 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544754165 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544754190 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2544754204 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544754244 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544754396 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544756965 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2544757259 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544757590 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T
RS2544758303 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544768869 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544769485 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544769929 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544770043 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544772874 DNAH9 Health Risk Pathogenic —
RS2544775052 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544775084 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544775146 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544775519 CACNA1G Health Risk Likely pathogenic —
RS2544776076 CACNA1G Health Risk Likely pathogenic —
RS2544776290 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2544776487 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544776491 PKD1 Health Risk Pathogenic —
RS2544777318 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544777388 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544777576 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
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