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
RS2129938178 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129944173 GPAA1 Health Risk Pathogenic —
RS2129946524 GPAA1 Health Risk Likely pathogenic —
RS2129948795 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129948971 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129949245 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129978037 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2130000774 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130000832 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130029228 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130029302 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130029354 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130031690 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130031785 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130031802 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2130032250 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130032264 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130032358 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130032664 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2130036699 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130037261 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130039927 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041053 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041164 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041540 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041565 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041790 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041831 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041891 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130041954 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS2130042099 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS2130042109 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042381 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042421 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042549 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042609 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042673 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2130042683 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042921 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130042953 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043334 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043490 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043564 EXT1 Health Risk Pathogenic Exostoses, multiple
RS2130043699 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043834 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043872 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130043930 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130044416 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130044431 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130044984 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Inborn genetic diseases
RS2130045851 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2130045941 EXT1 Health Risk Pathogenic —
RS2130048793 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130050166 WRN Health Risk Likely pathogenic Werner syndrome, Progressive pulmonary failure
RS2130056280 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130068999 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2130095451 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130107479 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS2130117999 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118163 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118800 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118890 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118911 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2130119420 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130119772 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS2130120515 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121106 KCNQ3 Health Risk Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2130121219 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121425 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121430 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2130121624 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130127564 SCRIB Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS2130128566 KCNQ3 Health Risk Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2130133290 KCNQ3 Health Risk Likely pathogenic —
RS2130133359 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130134022 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2130140311 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130140321 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130155211 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130155645 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130155924 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130157703 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130164025 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130170949 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130171351 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130178691 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130178752 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130179621 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130179734 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130180236 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130180694 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130181003 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130181483 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130181658 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130202692 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130205786 GDF6 Health Risk Likely pathogenic Klippel-Feil syndrome 1, autosomal dominant
RS2130205866 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130223089 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130229354 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130229490 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
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