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
RS2547957228 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957230 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957334 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957481 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957512 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547957527 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957564 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957605 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547957643 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957658 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957743 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957750 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957968 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2547957977 GNPTAB Health Risk Likely pathogenic Mucolipidosis, Mucolipidosis
RS2547957986 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957990 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958000 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958006 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958051 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547958062 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958086 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958432 BNC1 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
RS2547958587 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958606 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS2547958660 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958662 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958666 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis
RS2547958696 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2547958706 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958737 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958738 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547958752 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958780 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958783 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547958817 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547959753 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547959783 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2547960192 CAMK2G Health Risk Likely pathogenic Intellectual developmental disorder 59, Intellectual developmental disorder 59
RS2547960923 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547961071 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547961279 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961354 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961437 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547961812 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961828 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961837 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961918 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961923 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547961931 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547962001 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547967537 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547967554 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547967574 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547967585 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547967869 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547967894 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2547970528 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547970698 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547972361 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547972420 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547975359 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis
RS2547975414 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547975422 GNPTAB Health Risk Likely pathogenic GNPTAB-related disorder, GNPTAB-related disorder
RS2547975433 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547977385 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547977438 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2547977587 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2547978077 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547988538 VPS13C Health Risk Likely pathogenic Young-onset Parkinson disease, Young-onset Parkinson disease
RS2547989462 GNPTAB Health Risk Likely pathogenic —
RS2547989547 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547989559 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547989611 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547989619 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547989679 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547991854 ADAMTS17 Health Risk Likely pathogenic —
RS2547991857 ADAMTS17 Health Risk Likely pathogenic —
RS2547996966 AQP2 Health Risk Pathogenic —
RS2547997066 AQP2 Health Risk Pathogenic —
RS2547998053 AQP2 Health Risk Likely pathogenic —
RS2547998083 AQP2 Health Risk Pathogenic —
RS2547998190 AQP2 Health Risk Pathogenic —
RS2547998388 AQP2 Health Risk Likely pathogenic —
RS2547998844 AQP2 Health Risk Likely pathogenic —
RS2548003441 ADAMTS17 Health Risk Pathogenic —
RS2548004546 ADAMTS17 Health Risk Pathogenic —
RS2548018046 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2548019791 STAT6 Health Risk Pathogenic Hyper-IgE syndrome 6, autosomal dominant
RS2548024083 ADK Health Risk Likely pathogenic Adenosine kinase deficiency, Adenosine kinase deficiency
RS2548025666 STAT6 Health Risk Pathogenic Hyper-IgE syndrome 6, autosomal dominant
RS2548028819 STAT6 Health Risk Pathogenic Hyper-IgE syndrome 6, autosomal dominant
RS2548028861 STAT6 Health Risk Pathogenic Hyper-IgE syndrome 6, autosomal dominant
RS2548032920 NRCAM Health Risk Likely pathogenic Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS2548053933 LRP1 Health Risk Pathogenic Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
RS2548068708 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068713 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068720 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068762 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548068771 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068883 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
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