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
RS2506115406 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506115412 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506115439 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2506115448 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2506115622 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS2506121441 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2506121884 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS2506123378 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506123834 SPG21 Health Risk Pathogenic Mast syndrome, Mast syndrome
RS2506123909 SPG21 Health Risk Pathogenic Mast syndrome, Mast syndrome
RS2506126021 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506127645 LTBP2 Health Risk Likely pathogenic LTBP2-related disorder, LTBP2-related disorder
RS2506128598 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2506128866 CDAN1 Health Risk Pathogenic —
RS2506128996 LTBP2 Health Risk Pathogenic —
RS2506131342 CDAN1 Health Risk Likely pathogenic Anemia, congenital dyserythropoietic
RS2506133762 LTBP2 Health Risk Pathogenic Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
RS2506134863 LTBP2 Health Risk Pathogenic —
RS2506136232 LTBP2 Health Risk Pathogenic —
RS2506136529 LTBP2 Health Risk Pathogenic —
RS2506136762 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2506137543 CDAN1 Health Risk Likely pathogenic Anemia, congenital dyserythropoietic
RS2506141454 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2506144425 LTBP2 Health Risk Likely pathogenic —
RS2506145287 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS2506148632 MTFMT Health Risk Pathogenic —
RS2506148934 LTBP2 Health Risk Pathogenic —
RS2506149766 MTFMT Health Risk Pathogenic —
RS2506149851 MTFMT Health Risk Pathogenic —
RS2506152416 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS2506152687 LTBP2 Health Risk Likely pathogenic —
RS2506161488 MTFMT Health Risk Pathogenic —
RS2506174334 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS2506174736 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2506177078 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506177716 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2506177866 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2506186149 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS2506192228 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506195060 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506195102 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506196328 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506196450 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506196512 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506196528 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506196596 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506196853 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506196933 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506197198 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506197229 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506197277 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506197342 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506197384 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506197444 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506197497 PALB2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2506213403 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506213740 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506213838 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506213944 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506214204 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506214645 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506214884 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506214923 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506215030 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506215046 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506215064 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2506215298 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Breast and/or ovarian cancer
RS2506215545 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506215585 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506215712 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506215747 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506216070 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506216606 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506216974 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506217335 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506217535 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506218552 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506219037 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506219220 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506219319 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506219403 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506220779 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506221301 NDUFAF5 Health Risk Likely pathogenic —
RS2506226146 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506226903 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506231338 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506235680 CCP110 Health Risk Likely pathogenic See cases, See cases
RS2506264238 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506264526 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506264814 PALB2 Health Risk Likely pathogenic —
RS2506264968 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506265040 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506265249 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506265634 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506265794 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2506265842 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506266271 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506266710 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506267514 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506269944 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
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