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
RS2128819989 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128820009 GCK Health Risk Pathogenic —
RS2128820046 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128820597 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS2128820605 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2128820620 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128820681 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2128821468 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2128821473 GCK Health Risk Conflicting classifications of pathogenicity —
RS2128821476 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2128821490 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2128821509 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128821512 GCK Health Risk Conflicting classifications of pathogenicity —
RS2128821515 GCK Health Risk Pathogenic —
RS2128821570 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS2128821587 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS2128821589 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2128821624 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2128821636 GCK Health Risk Likely pathogenic —
RS2128822050 GCK Health Risk Likely pathogenic —
RS2128822093 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2128822108 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128822614 GCK Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus 1, Permanent neonatal diabetes mellitus 1
RS2128822633 GCK Health Risk Likely pathogenic —
RS2128822650 GCK Health Risk Pathogenic —
RS2128822656 GCK Health Risk Likely pathogenic —
RS2128822668 GCK Health Risk Pathogenic —
RS2128822695 GCK Health Risk Likely pathogenic Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency
RS2128822720 GCK Health Risk Conflicting classifications of pathogenicity —
RS2128823089 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128823091 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2128823130 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128823146 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2128823213 GCK Health Risk Pathogenic —
RS2128825710 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128826930 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2128829368 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128829880 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2128830113 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128830784 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2128830974 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128834774 GCK Health Risk Pathogenic —
RS2128835130 LPL Health Risk Pathogenic —
RS2128835296 EYA1 Health Risk Likely pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2128835339 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128835431 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128836980 LPL Health Risk Likely pathogenic —
RS2128837004 LPL Health Risk Pathogenic —
RS2128837699 LPL Health Risk Pathogenic —
RS2128838006 LPL Health Risk Likely pathogenic —
RS2128838150 LPL Health Risk Pathogenic —
RS2128838178 LPL Health Risk Likely pathogenic —
RS2128838185 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipidemia, familial combined
RS2128838188 LPL Health Risk Pathogenic Hyperlipidemia, familial combined
RS2128838194 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS2128838491 LPL Health Risk Pathogenic —
RS2128838546 LPL Health Risk Pathogenic —
RS2128838564 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipidemia, familial combined
RS2128838568 LPL Health Risk Conflicting classifications of pathogenicity —
RS2128838569 LPL Health Risk Pathogenic —
RS2128839190 LPL Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hyperlipoproteinemia
RS2128839227 LPL Health Risk Likely pathogenic Hyperlipidemia, familial combined
RS2128839576 LPL Health Risk Pathogenic —
RS2128839600 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS2128839623 LPL Health Risk Likely pathogenic —
RS2128839625 LPL Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2128839831 LPL Health Risk Likely pathogenic —
RS2128844640 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128845440 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128845860 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128846824 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128847171 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128850253 EYA1 Health Risk Pathogenic Anhydramnios, Bilateral renal agenesis
RS2128850318 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Otofaciocervical syndrome 1
RS2128850357 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128850745 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 1, Melnick-Fraser syndrome
RS2128850973 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2128851100 EYA1 Health Risk Likely pathogenic —
RS2128851194 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128853368 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128853806 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128853840 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128854024 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128854105 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128854556 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128854635 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128854678 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128860927 NOBOX Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2128861344 NOBOX Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2128865599 ARFGEF1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2128865814 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128865982 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128866045 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128866103 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128870578 ARFGEF1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2128886555 ATP6V1B2 Health Risk Pathogenic ATP6V1B2 related neurodevelopmental disorders, Zimmermann-Laband syndrome 2
RS2128900324 ARFGEF1 Health Risk Likely pathogenic Intellectual disability, Focal-onset seizure
RS2128904607 EYA1 Health Risk Likely pathogenic —
RS2128904613 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128904621 EYA1 Health Risk Likely pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
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