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
RS2517350221 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517351044 SON Health Risk Pathogenic —
RS2517351378 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517354241 MCM3AP Health Risk Pathogenic —
RS2517358316 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517360088 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517360414 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517361483 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517362747 SON Health Risk Pathogenic SON-related disorder, SON-related disorder
RS2517364357 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517364388 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517365943 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517366003 SON Health Risk Likely pathogenic SON-related disorder, SON-related disorder
RS2517366385 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517366478 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA
RS2517366644 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517367249 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517367397 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2517368270 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517368419 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517368476 MCM3AP Health Risk Likely pathogenic —
RS2517368826 SYNJ1 Health Risk Likely pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2517368907 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517370239 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517371094 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517373694 TSPEAR Health Risk Pathogenic —
RS2517373699 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517374413 TSPEAR Health Risk Pathogenic —
RS2517375631 MCM3AP Health Risk Likely pathogenic —
RS2517377176 COL18A1 Health Risk Pathogenic —
RS2517377446 COL18A1 Health Risk Pathogenic —
RS2517379776 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517381422 SON Health Risk Pathogenic —
RS2517382043 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517386716 MCM3AP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517387184 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517389781 MCM3AP Health Risk Pathogenic —
RS2517390727 MCM3AP Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, autosomal recessive
RS2517391041 SON Health Risk Likely pathogenic —
RS2517391196 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517392381 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS2517394724 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517395064 SON Health Risk Pathogenic —
RS2517395250 TSPEAR Health Risk Likely pathogenic TSPEAR-related disorder, TSPEAR-related disorder
RS2517395485 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517395819 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517399568 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517399972 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517400216 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS2517400347 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517401007 MCM3AP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517401659 MCM3AP Health Risk Pathogenic —
RS2517403114 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517403206 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517411603 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517412566 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517412611 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517413033 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517413127 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517418480 MCM3AP Health Risk Pathogenic —
RS2517422081 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517422365 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517422915 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517423269 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517423296 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517423483 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517424159 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517424268 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517424319 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517424327 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517424483 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517425105 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517425362 CBS Health Risk Likely pathogenic Homocystinuria, Classic homocystinuria
RS2517428448 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517429476 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517429781 CBS Health Risk Likely pathogenic Homocystinuria, Homocystinuria
RS2517434063 MCM3AP Health Risk Likely pathogenic —
RS2517435640 MCM3AP Health Risk Pathogenic —
RS2517436177 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517436265 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517436400 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517436554 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517436589 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517436753 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517436960 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517437126 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517437166 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517437278 MCM3AP Health Risk Pathogenic —
RS2517437634 MCM3AP Health Risk Pathogenic —
RS2517438095 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517438116 MCM3AP Health Risk Pathogenic —
RS2517438242 MCM3AP Health Risk Pathogenic —
RS2517438518 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS2517439109 MCM3AP Health Risk Pathogenic —
RS2517439152 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517439168 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517439221 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517439367 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS2517439655 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517439683 MCM3AP Health Risk Pathogenic/Likely pathogenic —
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