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
RS2544690519 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690565 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544690643 NF1 Health Risk Pathogenic —
RS2544690691 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690717 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544690768 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544691950 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544692049 PKD1 Health Risk Pathogenic —
RS2544693381 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544693552 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544695286 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544695896 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544695974 BRIP1 Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Fanconi anemia complementation group J
RS2544696032 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544696268 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544696416 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2544696439 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544696743 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544696786 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544697127 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544698040 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544698078 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544698218 NXN Health Risk Pathogenic —
RS2544699266 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS2544700193 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700259 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700348 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700366 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544700568 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700730 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544700783 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700816 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544700880 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544700934 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701027 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544701053 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701059 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701125 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701178 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544701247 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701268 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701332 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701461 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701474 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544701563 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544701569 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2544701595 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701804 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544701917 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544705725 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome 7, Joubert syndrome 7
RS2544705900 CHD3 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, CHD3-related disorder
RS2544706126 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544706912 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544707873 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544708386 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544710305 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544710685 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544711045 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544711824 ODAD4 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2544712716 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544712802 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544712917 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult (ADPKD)
RS2544713742 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544715201 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544715242 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544715496 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544715545 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544716328 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544717084 DNAH9 Health Risk Pathogenic —
RS2544717535 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544717657 USB1 Health Risk Likely pathogenic —
RS2544717844 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2544717941 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544718286 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544718564 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544718591 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2544718715 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544718720 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544718723 SPECC1 Health Risk Likely pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2544718731 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544718812 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544718880 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544718919 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544718974 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2544719014 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544719104 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544719118 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544719176 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544719194 NF1 Health Risk Likely pathogenic —
RS2544719215 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2544719457 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2544726550 USB1 Health Risk Pathogenic —
RS2544729773 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544729882 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544729897 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544729906 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544730117 PKD1 Health Risk Pathogenic —
RS2544730146 PKD1 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease
RS2544730274 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544730498 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
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