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
RS2143823499 GAA Health Risk Pathogenic —
RS2143824066 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2143825870 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143826963 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143827149 GAA Health Risk Likely pathogenic —
RS2143827215 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143827701 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143829023 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143829478 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143829649 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143833579 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143834462 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143834640 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143834983 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143838681 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2143842283 PIEZO2;MIR6788 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS2143843115 PIEZO2 Health Risk Pathogenic —
RS2143845687 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143845939 FSCN2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2143846283 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2143847172 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143848897 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143849151 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143849443 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS2143849751 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143849978 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143850723 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143852568 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143852733 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143853617 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143853690 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143853726 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS2143853790 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2143853890 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143854537 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143854659 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143854758 RAD51C Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2143854783 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143856709 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143856758 TBX4 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS2143857127 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143857207 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2143858151 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143858305 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143860891 UNC13D Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2143860927 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS2143861174 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143861305 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143862827 TBX4 Health Risk Pathogenic —
RS2143865621 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143865725 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143866086 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143866239 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143866303 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143866321 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143866454 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143866789 METTL23 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 44
RS2143867385 METTL23 Health Risk Pathogenic —
RS2143871845 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143872026 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143872061 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143872212 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143872219 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2143872349 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143872369 PYCR1 Health Risk Likely pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS2143872679 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143872904 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2143873095 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873205 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873387 NF1 Health Risk Pathogenic NF1-related disorder, NF1-related disorder
RS2143873403 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873634 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2143873673 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873710 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873786 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873811 NF1 Health Risk Pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis-Noonan syndrome
RS2143873866 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143873917 IKZF3 Health Risk Pathogenic Immunodeficiency 84, Immunodeficiency 84
RS2143874087 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143874110 NF1 Health Risk Pathogenic —
RS2143874124 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143874127 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143874147 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143874154 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143874232 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143874287 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143874352 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2143874398 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2143874573 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143874754 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143875175 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143875243 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2143876026 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2143877155 UNC13D Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
RS2143878241 UNC13D Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2143878420 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143878590 NF1 Health Risk Pathogenic —
RS2143878810 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143878832 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143878939 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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