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
RS2514538137 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514538159 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514538551 SLC4A11 Health Risk Pathogenic —
RS2514538931 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514538986 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2514539387 SLC4A11 Health Risk Pathogenic —
RS2514541181 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514544261 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514544299 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514544388 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514545916 RBCK1 Health Risk Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2514545949 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2514546031 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514546551 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514549046 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514549413 JAK3 Health Risk Likely pathogenic —
RS2514549645 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514549730 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514550384 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514550586 SLC4A11 Health Risk Likely pathogenic —
RS2514551572 SLC4A11 Health Risk Pathogenic —
RS2514553135 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514553390 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514554819 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514555104 SLC4A11 Health Risk Pathogenic —
RS2514556610 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514556659 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514558988 SLC4A11 Health Risk Pathogenic —
RS2514559502 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514559505 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514560054 SLC4A11 Health Risk Pathogenic —
RS2514560903 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2514561147 SLC4A11 Health Risk Likely pathogenic —
RS2514561322 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514563055 SLC4A11 Health Risk Likely pathogenic —
RS2514565960 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514566418 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514566459 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514568357 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514569208 SLC4A11 Health Risk Pathogenic —
RS2514570481 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS2514570944 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514571932 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514572030 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514572175 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514574248 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514575421 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514575779 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514576148 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514577444 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514577605 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514577804 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514578433 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514578977 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514579231 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514579287 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514579552 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514580420 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Thyroid cancer
RS2514582034 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514582221 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514582341 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2514591958 RYR1 Health Risk Likely pathogenic —
RS2514592098 SLC4A11 Health Risk Pathogenic —
RS2514599740 SLC4A11 Health Risk Pathogenic —
RS2514599811 RYR1 Health Risk Likely pathogenic RYR1-related disorder, King Denborough syndrome
RS2514600162 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514600175 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514600630 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514601212 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514601734 SLC4A11 Health Risk Pathogenic —
RS2514607038 SLC4A11 Health Risk Pathogenic —
RS2514611070 SLC5A5 Health Risk Pathogenic —
RS2514611636 SLC5A5 Health Risk Pathogenic —
RS2514611674 SLC5A5 Health Risk Pathogenic/Likely pathogenic SLC5A5-related disorder, Thyroid dyshormonogenesis 1
RS2514612011 SLC5A5 Health Risk Pathogenic —
RS2514615050 SLC5A5 Health Risk Likely pathogenic —
RS2514620296 SLC5A5 Health Risk Pathogenic —
RS2514623680 SLC5A5 Health Risk Pathogenic —
RS2514624226 SLC5A5 Health Risk Likely pathogenic —
RS2514624625 SLC5A5 Health Risk Likely pathogenic —
RS2514625219 SLC5A5 Health Risk Likely pathogenic —
RS2514631082 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2514631912 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2514632975 CSNK2A1 Health Risk Likely pathogenic —
RS2514633332 PNKP Health Risk Pathogenic —
RS2514633587 PNKP Health Risk Pathogenic Microcephaly, seizures
RS2514634940 SLC4A11 Health Risk Pathogenic —
RS2514635320 SLC4A11 Health Risk Pathogenic —
RS2514636093 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2514636796 SLC5A5 Health Risk Likely pathogenic —
RS2514637165 PNKP Health Risk Likely pathogenic Microcephaly, seizures
RS2514637650 SLC5A5 Health Risk Pathogenic —
RS2514637765 SLC5A5 Health Risk Pathogenic —
RS2514637870 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514638711 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2514640200 DLL3 Health Risk Pathogenic —
RS2514641142 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2514643690 DLL3 Health Risk Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS2514643983 DLL3 Health Risk Pathogenic —
RS2514644062 PNKP Health Risk Likely pathogenic Microcephaly, seizures
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