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
RS2548068889 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068894 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548068920 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548071249 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548072023 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548072028 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS2548072047 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548072133 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548072160 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548072230 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548082631 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548082658 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548082672 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548082731 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548082750 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548090655 MAPK8IP3 Health Risk Pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS2548095304 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548095308 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548095325 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548095371 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS2548095379 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS2548095417 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548095423 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548096558 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2548096639 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS2548105720 CPLANE1 Health Risk Pathogenic —
RS2548108996 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2548112862 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548112881 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548112960 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548113260 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548113423 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548113928 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548116564 ADAMTS17 Health Risk Pathogenic —
RS2548119843 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS2548120498 VPS13C Health Risk Likely pathogenic —
RS2548121140 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS2548122686 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548123187 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548125094 ADAMTS17 Health Risk Pathogenic —
RS2548140072 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2548142680 PCCA Health Risk Pathogenic PCCA-related disorder, PCCA-related disorder
RS2548142725 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548142802 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548143083 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548144366 SCAPER Health Risk Likely pathogenic SCAPER-related disorder, SCAPER-related disorder
RS2548147835 VPS13C Health Risk Pathogenic —
RS2548148441 SOX5 Health Risk Pathogenic —
RS2548154497 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548154517 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548157942 IGFALS Health Risk Likely pathogenic Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS2548164806 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2548168192 KCNC2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2548168565 MEF2C Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2548180428 EPB41 Health Risk Pathogenic/Likely pathogenic EPB41-related disorder, Elliptocytosis 1
RS2548185457 GNPTG Health Risk Pathogenic —
RS2548185516 GNPTG Health Risk Pathogenic —
RS2548185517 GNPTG Health Risk Pathogenic —
RS2548185540 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2548185737 GNPTG Health Risk Pathogenic —
RS2548185743 GNPTG Health Risk Pathogenic —
RS2548185752 GNPTG Health Risk Likely pathogenic —
RS2548185876 GNPTG Health Risk Pathogenic —
RS2548189355 GNPTG Health Risk Likely pathogenic —
RS2548189368 GNPTG Health Risk Pathogenic —
RS2548189385 GNPTG Health Risk Pathogenic —
RS2548189390 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2548189596 GNPTG Health Risk Pathogenic —
RS2548189633 GNPTG Health Risk Likely pathogenic —
RS2548189836 GNPTG Health Risk Pathogenic —
RS2548189846 GNPTG Health Risk Pathogenic —
RS2548189890 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2548190056 GNPTG Health Risk Pathogenic —
RS2548190157 GNPTG Health Risk Likely pathogenic —
RS2548190448 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2548190467 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2548190486 GNPTG Health Risk Pathogenic —
RS2548190488 GNPTG Health Risk Pathogenic —
RS2548190647 GNPTG Health Risk Pathogenic —
RS2548190655 GNPTG Health Risk Pathogenic —
RS2548195978 MEIOB Health Risk Pathogenic Spermatogenic failure 22, Spermatogenic failure 22
RS2548199661 DOCK3 Health Risk Likely pathogenic DOCK3-related disorder, DOCK3-related disorder
RS2548206668 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2548207397 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548211131 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548211210 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548211710 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548211822 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548213278 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548214240 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548216361 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548217212 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548217715 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548218058 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548218922 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548218961 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548219251 CPLANE1 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2548221544 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2548222345 SLX4 Health Risk Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS2548224341 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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