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
RS2508780112 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780157 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508780195 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508780232 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780286 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780332 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780368 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780383 EFTUD2 Health Risk Likely pathogenic —
RS2508780409 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508780414 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508783265 EFTUD2 Health Risk Pathogenic —
RS2508783361 EFTUD2 Health Risk Pathogenic See cases, See cases
RS2508800647 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508800692 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508800922 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508800997 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801101 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801142 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508801340 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801381 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801516 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801565 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801696 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508801763 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801805 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508801846 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508803545 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2508803926 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2508804987 NF1 Health Risk Pathogenic —
RS2508805020 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805085 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805239 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805418 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508805445 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805466 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508805509 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805667 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508805673 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508805684 NF1 Health Risk Pathogenic/Likely pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS2508805690 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805710 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508805885 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508805997 NF1 Health Risk Pathogenic —
RS2508808119 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508808238 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508808338 EFTUD2 Health Risk Pathogenic/Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508808547 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508811266 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2508811540 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508811618 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508811738 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508811747 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508811911 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508811953 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508812125 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508812228 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508812294 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508812326 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508819800 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508819908 EFTUD2 Health Risk Pathogenic —
RS2508819919 EFTUD2 Health Risk Conflicting classifications of pathogenicity Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508823272 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508823930 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508823978 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508824483 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827066 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827069 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508827139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827192 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827298 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827517 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508827554 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827576 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827628 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827674 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508827711 NF1 Health Risk Pathogenic —
RS2508827786 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508828016 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508828109 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508828157 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508829785 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508829794 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508829802 NF1 Health Risk Pathogenic —
RS2508829864 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508829895 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508830006 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508830033 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508830068 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508830118 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508830129 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508830135 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508830189 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508830236 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508830390 NF1 Health Risk Pathogenic —
RS2508834497 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508834526 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508834800 EFTUD2 Health Risk Pathogenic —
RS2508834805 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508834808 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508834874 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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