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
RS2544536389 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2544536867 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2544553087 COL13A1 Health Risk Pathogenic —
RS2544553468 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2544554358 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2544554401 BRIP1 Health Risk Pathogenic Ovarian cancer, Ovarian cancer
RS2544554882 DNAH9 Health Risk Likely pathogenic —
RS2544557156 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544557300 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2544557355 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544557750 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544558013 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2544559021 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2544559501 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2544559614 NF1 Health Risk Pathogenic Café-au-lait macules with pulmonary stenosis, Café-au-lait macules with pulmonary stenosis
RS2544559904 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544561324 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544562546 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2544562596 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544569440 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544570270 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544570367 BRIP1 Health Risk Pathogenic Ovarian cancer, Fanconi anemia complementation group J
RS2544570407 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544570534 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2544571074 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544571822 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544572293 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544572421 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544572786 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2544573042 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544573186 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544573668 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544574443 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2544574598 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2544576934 PKD1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2544578227 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544578450 PKD1 Health Risk Likely pathogenic —
RS2544578657 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544578714 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544578863 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544579185 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544579371 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544580431 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544585102 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS2544585235 FZD2 Health Risk Likely pathogenic —
RS2544586222 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544587268 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544587726 PKD1 Health Risk Likely pathogenic —
RS2544588372 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544589539 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544589581 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544591393 NFKB2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2544592433 PKD1 Health Risk Pathogenic —
RS2544593076 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544593252 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544593424 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544594493 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544596335 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544596466 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544596612 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544597444 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544599226 PKD1 Health Risk Pathogenic —
RS2544599360 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544599434 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544599608 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544599759 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544600433 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544600517 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544600781 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544604385 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544604439 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2544604612 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2544605175 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544605962 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2544608353 ACACA Health Risk Pathogenic/Likely pathogenic Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
RS2544612394 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544613272 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544613308 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544613573 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544614209 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544614260 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544614330 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544615173 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2544615278 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544615479 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544615546 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544615836 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544617550 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2544618037 SLC13A5 Health Risk Pathogenic —
RS2544619495 PKD1 Health Risk Likely pathogenic —
RS2544619656 PKD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544619758 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544620270 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544620357 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2544620365 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544620374 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2544620523 PKD1 Health Risk Pathogenic —
RS2544620556 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2544620617 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2544621217 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
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