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
RS1567612647 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567613569 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567613595 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567613604 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567613616 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567613630 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567613669 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1567613682 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567614073 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1567614360 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1567614448 ANKRD11 Health Risk Likely pathogenic —
RS1567615766 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567615852 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567615872 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567615902 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567615941 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567616135 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567616570 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1567616649 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
RS1567616704 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567616894 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567616928 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567616975 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567617045 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567617129 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567617158 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567617371 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567617536 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567617669 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567617727 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567617849 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567617877 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567618250 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567618264 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567618413 PIGS Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1567618790 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567618907 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567619102 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567619134 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567620374 MYO15A Health Risk Pathogenic —
RS1567620403 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567620939 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Nonsyndromic genetic hearing loss
RS1567621034 PMFBP1 Health Risk Pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS1567621042 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567623176 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567623439 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567623480 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567623508 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567624190 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567625065 WWOX Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1567625163 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567626023 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567626632 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567626919 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567626945 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627138 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627210 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627217 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567627268 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627282 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627286 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567627709 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567627755 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567628294 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567628757 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567628967 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567629943 CARMIL2 Health Risk Pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567629968 CARMIL2 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency, Chronic colitis
RS1567632441 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1567632829 CARMIL2 Health Risk Pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567632864 CARMIL2 Health Risk Pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1567633766 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1567635573 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1567635867 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1567635954 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1567636493 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4C
RS1567636622 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS1567636915 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1567637144 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1567637467 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1567638401 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1567638550 CHRNE Health Risk Pathogenic —
RS1567638676 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1567638693 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567639631 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1567639913 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1567641234 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS1567642367 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567644030 CERS3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
RS1567645786 FANCA Health Risk Likely pathogenic —
RS1567648703 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567649945 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS1567650859 SLC25A11 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS1567650874 SLC25A11 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS1567650971 MYO15A Health Risk Pathogenic —
RS1567651815 SLC25A11 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS1567652792 MYO15A Health Risk Likely pathogenic —
RS1567657684 ADAMTS17 Health Risk Pathogenic —
RS1567658710 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
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