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
RS1595312054 SLC24A4 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
RS1595312698 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595313951 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pleuropulmonary blastoma
RS1595314576 DICER1 Health Risk Pathogenic Euthyroid goiter, Pleuropulmonary blastoma
RS1595314951 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Supratentorial primitive neuroectodermal tumor
RS1595315137 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595315343 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595330360 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595331224 DICER1 Health Risk Pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition
RS1595331264 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595331427 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1595331599 MAGEL2 Health Risk Pathogenic —
RS1595332359 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1595332462 MAGEL2 Health Risk Likely pathogenic —
RS1595332731 MAGEL2 Health Risk Pathogenic/Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1595334202 MAGEL2 Health Risk Likely pathogenic —
RS1595334203 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1595337717 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595337739 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1595338209 DICER1 Health Risk Likely pathogenic —
RS1595340380 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595341062 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595341418 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595341965 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595343204 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595354013 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595354040 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595362860 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1595363556 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595363945 DICER1 Health Risk Likely pathogenic Euthyroid goiter, Euthyroid goiter
RS1595364159 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595364250 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595364529 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595365114 DICER1 Health Risk Likely pathogenic —
RS1595365532 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595365941 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595367266 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595367992 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595370466 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595371059 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595372666 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595372924 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595372950 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595374375 DICER1 Health Risk Pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS1595374387 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595375255 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1595375630 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1595376260 UBE3A Health Risk Likely pathogenic —
RS1595379041 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595379089 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595379319 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595379355 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595379448 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595380007 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595380153 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595380210 DICER1 Health Risk Likely pathogenic —
RS1595380836 DICER1 Health Risk Likely pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS1595381000 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595381016 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595381795 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595382041 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595382501 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS1595382528 DICER1 Health Risk Likely pathogenic —
RS1595387492 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1595390864 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595391320 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595394092 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595396643 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595397289 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595402535 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595403854 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595406359 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595407375 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595407392 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595410942 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595411687 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595414835 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595414866 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595414962 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595416752 RALGAPA1 Health Risk Pathogenic Feeding difficulties, Neurodevelopmental disorder with hypotonia
RS1595418005 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595428826 KIAA0586 Health Risk Likely pathogenic —
RS1595430425 SLC12A6 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1595431276 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595437286 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595438021 DICER1 Health Risk Likely pathogenic —
RS1595438051 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595438165 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595438234 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS1595438243 GABRA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 79
RS1595438268 GABRA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 79
RS1595438347 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595438867 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595440443 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1595440448 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1595440453 GABRB3 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1595440577 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595441329 GABRA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 79
RS1595442984 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1595445975 GABRB3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 43
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