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
RS2143878968 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879304 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879509 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879547 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879651 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879667 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143879675 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143880536 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143880646 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143882034 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143882664 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143882997 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143883054 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143883097 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143883327 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143883845 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143884018 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143885612 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143885916 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886056 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886403 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143886422 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886507 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886864 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143886904 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143887003 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143887054 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143887087 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143887823 LOXHD1 Health Risk Pathogenic —
RS2143888280 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143891559 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143892028 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143892473 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143892615 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143892654 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143893153 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143895928 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143896492 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143897458 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143903171 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143904159 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9
RS2143904721 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143913299 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS2143913707 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143913948 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143914353 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143914685 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143914721 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143914781 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143914954 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143914991 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143915068 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143915236 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143916424 LOXHD1 Health Risk Pathogenic —
RS2143918072 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2143919227 LOXHD1 Health Risk Pathogenic —
RS2143919451 GAA Health Risk Likely pathogenic —
RS2143920189 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143921132 LOXHD1 Health Risk Likely pathogenic —
RS2143924649 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143924790 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143925134 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143925402 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143926009 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143929613 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2143930383 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143930413 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143930800 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143930978 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143931061 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143932427 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143934702 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143936992 BCKDK Health Risk Pathogenic Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS2143940594 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143957245 LOXHD1 Health Risk Pathogenic —
RS2143958483 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143958767 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143958833 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143959211 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2143959220 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143959373 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143959428 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143959602 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143959812 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143959905 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960130 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960248 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960301 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960519 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960631 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960778 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143960866 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143961181 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143961266 RAD51C Health Risk Conflicting classifications of pathogenicity Breast carcinoma, Fanconi anemia complementation group O
RS2143961536 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143961567 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143962519 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2143962532 FAM20A Health Risk Likely pathogenic —
RS2143963184 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
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