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
RS1555533548 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533549 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533550 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533552 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533555 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533559 NF1 Health Risk Conflicting classifications of pathogenicity Café-au-lait macules with pulmonary stenosis, Neurofibromatosis
RS1555533561 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533562 NF1 Health Risk Pathogenic —
RS1555533566 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533569 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555533571 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533587 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533589 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533609 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533621 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555533628 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533631 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533636 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533638 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533641 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533644 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533648 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533650 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555533693 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555533754 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1555533840 CTC1 Health Risk Likely pathogenic —
RS1555533842 NF1 Health Risk Pathogenic Inborn genetic diseases, Neurofibromatosis
RS1555533843 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533853 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533856 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533863 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533871 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533873 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555533875 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555533880 NF1 Health Risk Pathogenic —
RS1555533882 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533883 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533887 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533889 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534060 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555534067 CTCF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555534093 CTCF Health Risk Pathogenic —
RS1555534147 CTCF Health Risk Pathogenic Inborn genetic diseases, CTCF-related neurodevelopmental disorder
RS1555534189 CTCF Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, CTCF-related neurodevelopmental disorder
RS1555534307 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534375 NF1 Health Risk Pathogenic —
RS1555534378 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534379 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534380 NF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555534391 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534393 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534394 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534411 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534430 ALDH3A2 Health Risk Likely pathogenic —
RS1555534432 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534433 NF1 Health Risk Pathogenic Neurofibromatosis, familial spinal
RS1555534434 ALDH3A2 Health Risk Likely pathogenic —
RS1555534435 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534472 ALDH3A2 Health Risk Likely pathogenic —
RS1555534521 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555534595 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534596 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555534600 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534609 NF1 Health Risk Pathogenic —
RS1555534611 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534612 NF1 Health Risk Conflicting classifications of pathogenicity Premature birth, Floppy infant
RS1555534616 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534618 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555534621 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534661 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534667 NF1 Health Risk Pathogenic Pilocytic astrocytoma, Neurofibromatosis
RS1555534669 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534673 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555534677 NF1 Health Risk Pathogenic Cafe au lait spots, multiple
RS1555534680 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534697 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534708 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534712 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534726 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534735 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555534751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534755 NF1 Health Risk Pathogenic —
RS1555534766 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534770 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534775 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534859 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534885 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534886 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534893 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534907 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534913 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534917 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534918 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555534919 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555534928 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534929 NF1 Health Risk Pathogenic Axillary freckling, Inguinal freckling
RS1555534930 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555534948 NF1 Health Risk Pathogenic —
RS1555534950 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555534952 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
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