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
RS2485562923 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2485562982 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS2485575117 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS2485575164 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2485575173 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485575178 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2485577175 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485577477 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485617639 WEE2 Health Risk Pathogenic —
RS2485626958 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2485654139 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2485666331 PPP1R35 Health Risk Pathogenic Progressive microcephaly, Progressive microcephaly
RS2485689198 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2485692231 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485697689 CAMK2B Health Risk Likely pathogenic —
RS2485717743 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2485717851 RELN Health Risk Likely pathogenic RELN-related disorder, RELN-related disorder
RS2485729429 SLC25A13 Health Risk Likely pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS2485729829 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485736654 SLC25A13 Health Risk Likely pathogenic —
RS2485736833 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485738685 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2485749454 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS2485755924 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485760600 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485780102 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS2485789680 KMT2C Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2485791673 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485791702 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485792452 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485792717 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485792804 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485796243 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485806968 ATP6V0A4 Health Risk Likely pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS2485819162 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485819209 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485821259 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485823613 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485829669 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485835065 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2485837844 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485838385 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485838622 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485839244 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS2485846446 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2485855763 ATP6V0A4 Health Risk Likely pathogenic Renal tubular acidosis, distal
RS2485855824 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS2485855918 ATP6V0A4 Health Risk Likely pathogenic Renal tubular acidosis, distal
RS2485876010 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS2485880890 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485880908 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485881102 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485881210 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485881405 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485881817 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485881992 XRCC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485882087 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485884567 RMND1 Health Risk Pathogenic —
RS2485893388 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2485894223 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485894532 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2485894614 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485894721 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485894793 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS2485894796 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS2485901377 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485901451 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485915480 RMND1 Health Risk Pathogenic —
RS2485915620 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485915656 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2485922583 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485922676 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485923443 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2485939911 RMND1 Health Risk Pathogenic —
RS2485959310 SYNE1 Health Risk Pathogenic —
RS2485962955 RMND1 Health Risk Pathogenic —
RS2485967112 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2485973971 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485974086 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485974231 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485974252 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2485974254 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS2485979609 AASS Health Risk Likely pathogenic Hyperlysinemia, Hyperlysinemia
RS2485982699 CUX1 Health Risk Likely pathogenic —
RS2485984699 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485984746 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485984791 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485985621 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485985882 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485995124 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2485999842 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486000512 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486000547 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486000773 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486001146 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486001403 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486001553 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486003255 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486003476 KCNH2 Health Risk Pathogenic —
RS2486004001 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
« Prev 1 ... 2094 2095 2096 2097 2098 2099 2100 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →