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
RS2517440116 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517440229 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517440416 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Acute myeloid leukemia
RS2517441155 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517442155 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517442308 SYNJ1 Health Risk Likely pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2517442346 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517442518 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS2517442774 MCM3AP Health Risk Likely pathogenic Peripheral neuropathy, autosomal recessive
RS2517443210 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517445086 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517445160 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS2517445243 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517447078 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517447331 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517447876 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517448132 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS2517450962 SEC23B Health Risk Likely pathogenic —
RS2517451331 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517452643 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517452797 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517453201 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517453236 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517453736 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517454033 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517454427 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517455884 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517457737 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517457847 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517460527 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517463579 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2517469276 SYCP2 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2517469335 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517469721 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517469815 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517470142 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517470416 DONSON Health Risk Likely pathogenic Microcephaly, short stature
RS2517470463 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517470846 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517471083 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517473808 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517473941 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2517474861 DONSON Health Risk Likely pathogenic Microcephaly, short stature
RS2517474921 DONSON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517475167 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517475620 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517476743 COMT Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2517481120 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517481800 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517481810 SYCP2 Health Risk Likely pathogenic Oligosynaptic infertility, Oligosynaptic infertility
RS2517482273 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517482439 SEC23B Health Risk Likely pathogenic —
RS2517482498 RUNX1 Health Risk Pathogenic RUNX1-related disorder, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517482635 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517483215 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517483238 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517483376 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517483521 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2517483668 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2517484633 TRAPPC10 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, short stature
RS2517484685 DONSON Health Risk Pathogenic Microcephaly, short stature
RS2517484911 DONSON Health Risk Likely pathogenic —
RS2517485238 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517485589 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517485865 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517485892 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517486812 RUNX1 Health Risk Pathogenic RUNX1-related disorder, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517487922 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517488147 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517488790 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517489991 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517501162 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2517508341 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517512756 SEC23B Health Risk Pathogenic —
RS2517513022 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517523586 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517523659 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS2517525537 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2517529277 MYO18B Health Risk Pathogenic —
RS2517530686 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS2517531900 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS2517532919 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517541465 SYNJ1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 53
RS2517546260 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517546301 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517546930 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547106 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547488 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547588 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547806 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547824 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517547973 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517548062 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517548621 DRG1 Health Risk Likely pathogenic Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
RS2517548883 CDC45 Health Risk Likely pathogenic —
RS2517553761 CDC45 Health Risk Pathogenic —
RS2517554170 CDC45 Health Risk Pathogenic —
RS2517554532 CDC45 Health Risk Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS2517557197 COL18A1 Health Risk Likely pathogenic —
RS2517574437 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
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