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
RS2466546655 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466547807 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466548552 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2466548605 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2466549385 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS2466549886 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS2466555085 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466555199 LRPPRC Health Risk Pathogenic —
RS2466555344 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466555474 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466555852 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466560501 PTCD3 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
RS2466561448 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466561720 LRPPRC Health Risk Pathogenic —
RS2466561726 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466562014 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466564858 LRPPRC Health Risk Likely pathogenic —
RS2466565444 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466565500 LRPPRC Health Risk Pathogenic —
RS2466565538 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466565735 LRPPRC Health Risk Pathogenic —
RS2466569420 LRPPRC Health Risk Pathogenic —
RS2466569435 LRPPRC Health Risk Pathogenic —
RS2466569559 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466569633 LRPPRC Health Risk Pathogenic —
RS2466569915 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466571300 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466571469 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466571559 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466575584 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466575705 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466575847 LRPPRC Health Risk Likely pathogenic —
RS2466579807 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466580454 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466583881 CRIPT Health Risk Likely pathogenic —
RS2466584318 LRPPRC Health Risk Pathogenic —
RS2466584394 LRPPRC Health Risk Likely pathogenic —
RS2466586448 PTCD3 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
RS2466593252 STAMBP Health Risk Pathogenic —
RS2466595181 CRIPT Health Risk Pathogenic Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
RS2466606027 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2466606700 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2466610093 FANCL Health Risk Likely pathogenic FANCL-related disorder, FANCL-related disorder
RS2466617245 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466617293 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466617723 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466618395 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2466620161 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466627756 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466627828 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466652883 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466653166 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2466654822 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2466657254 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2466658232 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2466659020 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2466659679 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466659682 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466659961 LRPPRC Health Risk Pathogenic —
RS2466660353 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466660937 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466661225 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466661325 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466662740 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466663066 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466665288 LRPPRC Health Risk Pathogenic —
RS2466666431 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466666497 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466666587 LRPPRC Health Risk Likely pathogenic —
RS2466668103 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2466668557 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466668674 LRPPRC Health Risk Pathogenic —
RS2466668849 LRPPRC Health Risk Likely pathogenic —
RS2466668863 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466668871 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466672753 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466675967 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466676219 LRPPRC Health Risk Likely pathogenic —
RS2466676589 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466676917 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466676948 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466676961 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466676986 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466677023 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466677048 LRPPRC Health Risk Pathogenic —
RS2466681808 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2466682288 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS2466683864 SFTPB Health Risk Likely pathogenic SFTPB-related disorder, SFTPB-related disorder
RS2466685286 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466685332 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466685590 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466685684 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466685763 SFTPB Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2466685784 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466685837 LRPPRC Health Risk Pathogenic —
RS2466685921 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466687208 SFTPB Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2466693520 MERTK Health Risk Pathogenic —
RS2466694282 LRPPRC Health Risk Likely pathogenic —
RS2466694465 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
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