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
RS2544621386 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544624546 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544624559 PKD1 Health Risk Pathogenic —
RS2544624572 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2544624823 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544625256 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544625519 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544625593 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544627057 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2544627335 CNGB1 Health Risk Likely pathogenic —
RS2544627585 TUBB3 Health Risk Pathogenic —
RS2544627741 TUBB3 Health Risk Likely pathogenic See cases, Complex cortical dysplasia with other brain malformations 1
RS2544627752 TUBB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2544628814 CNGB1 Health Risk Pathogenic —
RS2544630752 CNGB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2544630794 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2544631133 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544631346 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544631623 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544633415 - Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2544633545 CNGB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2544633550 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2544634307 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544635088 CNGB1 Health Risk Pathogenic —
RS2544636557 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2544637927 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544638357 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544638751 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2544638776 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544639462 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544639686 DNAH9 Health Risk Pathogenic —
RS2544640636 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544640834 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2544640942 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544641047 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544646197 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544646304 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544646598 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544646762 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544646806 PKD1 Health Risk Pathogenic —
RS2544646868 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544648459 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544648514 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544648778 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544650057 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544651188 CCDC88C Health Risk Likely pathogenic —
RS2544651236 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544652543 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544653894 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544654195 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544654552 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544655027 CNGB1 Health Risk Pathogenic —
RS2544655192 CCDC88C Health Risk Pathogenic —
RS2544657206 DNAH9 Health Risk Pathogenic —
RS2544658236 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544658938 FBXO7 Health Risk Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544659214 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544659247 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544660833 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544661194 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544663258 BCAS3 Health Risk Likely pathogenic Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome
RS2544665272 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544671633 FBXO7 Health Risk Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544672059 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2544674147 CNGB1 Health Risk Pathogenic —
RS2544676588 CNGB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2544678151 CNGB1 Health Risk Pathogenic —
RS2544678258 CNGB1 Health Risk Likely pathogenic —
RS2544680807 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544680852 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2544680914 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544680951 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681110 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681155 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681214 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681269 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681358 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681392 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544681396 NF1 Health Risk Pathogenic/Likely pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS2544681466 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544681496 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681553 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681570 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544681730 NF1 Health Risk Likely pathogenic —
RS2544681743 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681815 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544681845 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544681918 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544683005 CNGB1 Health Risk Pathogenic —
RS2544685880 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544688079 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544688140 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544688348 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544688790 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544689115 PKD1 Health Risk Likely pathogenic —
RS2544690255 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544690403 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690445 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690455 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690503 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
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