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
RS1597795664 EFTUD2 Health Risk Likely pathogenic —
RS1597796507 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597796682 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597796823 POLR2A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597796956 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597797251 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1597797917 EFTUD2 Health Risk Pathogenic/Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Neurodevelopmental disorder
RS1597798340 POLR2A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597798429 KRT14 Health Risk Likely pathogenic —
RS1597798503 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597798507 POLR2A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597801392 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1597801649 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
RS1597802479 MYOCD Health Risk Pathogenic Prune belly syndrome, Megabladder
RS1597802927 CNTNAP1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1597803120 POLR2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597803125 POLR2A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1597803558 MYO15A Health Risk Likely pathogenic —
RS1597804426 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597807512 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1597807758 CDH3 Health Risk Pathogenic Hypotrichosis with juvenile macular dystrophy, Hypotrichosis with juvenile macular dystrophy
RS1597807897 CDH3 Health Risk Likely pathogenic Hypotrichosis with juvenile macular dystrophy, Hypotrichosis with juvenile macular dystrophy
RS1597807901 CNTNAP1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1597808505 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1597809479 CDH3 Health Risk Likely pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS1597810359 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597810455 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597810544 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1597810843 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597811076 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1597816045 TCF12 Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS1597817636 CDH3 Health Risk Likely pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS1597819841 BRCA1 Health Risk Likely pathogenic —
RS1597820025 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597820426 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597822243 KRT10 Health Risk Likely pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS1597825560 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1597825629 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1597825743 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597829519 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829557 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829604 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829749 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829782 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597829901 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597829906 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597829912 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829913 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597829961 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597829969 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597830046 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597830078 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597830232 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597830263 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597830347 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer
RS1597830403 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1597830446 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1597831440 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1597831578 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1597831805 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597831850 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597831854 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597831986 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597831990 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832002 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597832021 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832043 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597832056 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832223 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832235 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832304 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597832360 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832482 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597832498 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597834560 SLC46A1 Health Risk Pathogenic/Likely pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS1597834703 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597834706 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597834760 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597834820 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597834842 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597834952 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597834959 NF1 Health Risk Pathogenic —
RS1597834973 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597834988 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597835688 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597838625 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1597838766 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1597838780 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1597838973 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1597839379 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1597839926 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597840008 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597840055 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597840087 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597840123 NF1 Health Risk Pathogenic —
RS1597840273 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597840291 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597842196 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597842212 KDM6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1597842221 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
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