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
RS2508718397 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718412 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718446 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718545 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718571 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508718691 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718729 EFTUD2 Health Risk Likely pathogenic —
RS2508718746 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508718827 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718875 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718930 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508718988 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719041 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719063 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508719231 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719279 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2508719308 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508719413 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719518 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2508719698 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719748 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719772 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508719790 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508722438 EFTUD2 Health Risk Likely pathogenic EFTUD2-related disorder, EFTUD2-related disorder
RS2508724440 STAT5B Health Risk Likely pathogenic Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
RS2508728134 EFTUD2 Health Risk Pathogenic —
RS2508728187 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508729987 EFTUD2 Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS2508729990 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508731371 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508731535 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2508732251 KRT14 Health Risk Pathogenic —
RS2508732857 STAT5B Health Risk Likely pathogenic —
RS2508734157 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS2508734738 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508736188 KRT14 Health Risk Pathogenic —
RS2508736213 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736222 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736327 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736384 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508736397 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736417 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736439 KRT14 Health Risk Pathogenic —
RS2508736519 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508736553 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736707 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736738 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508736942 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508736989 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737039 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737114 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737201 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737349 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737379 NF1 Health Risk Pathogenic —
RS2508737450 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737575 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737614 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737636 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737652 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508737761 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508740764 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508740991 EFTUD2 Health Risk Pathogenic —
RS2508744768 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508744797 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508745167 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508745297 NF1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2508745507 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508745600 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508747614 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508747683 EFTUD2 Health Risk Pathogenic —
RS2508747700 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508747968 NF1 Health Risk Pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS2508748012 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748209 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508748314 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748656 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508748734 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748849 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748884 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748916 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508748920 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508748949 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749106 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508749199 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508749314 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749387 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749399 NF1 Health Risk Likely pathogenic —
RS2508749459 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508749484 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749523 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749615 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749628 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749710 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508749729 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749828 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749872 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508749910 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749930 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508749992 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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