| RS3219466 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS3219484 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS3219488 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS3219489 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS3219494 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS3219497 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS334 |
HBB;LOC106099062;LOC107133510
|
Health Risk |
Pathogenic |
HEMOGLOBIN S, Hb SS disease |
| RS339041 |
OPN1SW
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS33910209 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN LESLIE, HEMOGLOBIN SHELBY |
| RS33910569 |
HBB
|
Health Risk |
Pathogenic; other |
BETA-PLUS-THALASSEMIA, DOMINANT |
| RS33911937 |
PRKCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS33913413 |
HBB
|
Health Risk |
Likely pathogenic |
BETA-PLUS-THALASSEMIA, Beta thalassemia intermedia |
| RS33913712 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33914359 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN N (BALTIMORE), HEMOGLOBIN N (JENKINS) |
| RS33914668 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33915112 |
HBB
|
Health Risk |
Pathogenic |
-, - |
| RS33915217 |
HBB
|
Health Risk |
Pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS33916412 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN GENOVA, HEMOGLOBIN HYOGO |
| RS33917628 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic; other |
HEMOGLOBIN CRETEIL, Erythrocytosis |
| RS33917785 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN SABINE, HEMOGLOBIN SABINE |
| RS33918338 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN ABRUZZO, HEMOGLOBIN SYRACUSE |
| RS33918343 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN M (MILWAUKEE 1), METHEMOGLOBINEMIA |
| RS33918436 |
SLC5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS33922842 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33922873 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN M (SASKATOON), HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA |
| RS33924146 |
HBB
|
Health Risk |
Pathogenic |
Hemolytic anemia, Hemolytic anemia |
| RS33924775 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN M (MILWAUKEE 2), HEMOGLOBIN M (HYDE PARK) |
| RS33925391 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
HEMOGLOBIN BEIRUT, 8 conditions |
| RS33926764 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN N (TIMONE), HEMOGLOBIN N (TIMONE) |
| RS33927012 |
SDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Cowden syndrome, Hereditary cancer-predisposing syndrome |
| RS33927093 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN PUTTELANGE, Hemoglobinopathy |
| RS33929459 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN PALMERSTON NORTH, Erythrocytosis |
| RS33930165 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN C, Malaria |
| RS33930702 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33930977 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS33931314 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN G (GEORGIA), HEMOGLOBIN ST. LUKE'S |
| RS33931746 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS33931779 |
HBB
|
Health Risk |
Pathogenic; other |
BETA-PLUS-THALASSEMIA, HEMOGLOBIN CAGLIARI |
| RS33932070 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN G (COPENHAGEN), HEMOGLOBIN G (COPENHAGEN) |
| RS33932559 |
MC1R
|
Health Risk |
Conflicting classifications of pathogenicity |
Melanoma, cutaneous malignant |
| RS33933298 |
HBB
|
Health Risk |
Pathogenic |
Hemoglobinopathy, Heinz body anemia |
| RS33933481 |
HBA2
|
Health Risk |
Pathogenic |
HEMOGLOBIN TARRANT, Heinz body anemia |
| RS33934457 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS33935328 |
HBA1
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN LEGNANO, Erythrocytosis |
| RS33935673 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS33936254 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN G (SASKATOON), HEMOGLOBIN G (TAEGU) |
| RS33937393 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN ALBERTA, Erythrocytosis |
| RS33939927 |
LRRK2
|
Health Risk |
Likely pathogenic |
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS33940204 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
HEMOGLOBIN BORAS, HBB-related disorder |
| RS33941377 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
BETA-PLUS-THALASSEMIA, Beta thalassemia intermedia |
| RS33941844 |
HBB
|
Health Risk |
Pathogenic; other |
METHEMOGLOBINEMIA, BETA TYPE |
| RS33941849 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33941929 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer |
| RS33943001 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33943087 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS33944208 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS33945705 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN KORLE-BU, beta Thalassemia |
| RS33945777 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, Beta zero thalassemia |
| RS33946267 |
HBB
|
Health Risk |
Pathogenic |
Hb D-Los Angeles, beta Thalassemia |
| RS33947020 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS33947415 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN CITY OF HOPE, beta Thalassemia |
| RS33948578 |
HBB
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN PERTH, HEMOGLOBIN ABRAHAM LINCOLN |
| RS33949390 |
LRRK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Parkinson disease 8, Early onset Alzheimer disease with behavioral disturbance |
| RS33949486 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
beta Thalassemia, Hb SS disease |
| RS33949869 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN BETHESDA, Erythrocytosis |
| RS33949930 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN RALEIGH, beta Thalassemia |
| RS33950507 |
HBB
|
Health Risk |
Pathogenic |
Hemoglobin E, BETA-PLUS-THALASSEMIA |
| RS33950778 |
HBB
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN SHANGHAI, HEMOGLOBIN SHANGHAI |
| RS33950993 |
HBB
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN SANTA CLARA, HEMOGLOBIN SANTA CLARA |
| RS33951465 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS33951978 |
HBB
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN WOOD, Erythrocytosis |
| RS33952266 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33953406 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS33954264 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN COWTOWN, Erythrocytosis |
| RS33954595 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN KEMPSEY, Erythrocytosis |
| RS33954632 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN VOLGA, HEMOGLOBIN DRENTHE |
| RS33956879 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, 9 conditions |
| RS33957964 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS33958088 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
beta Thalassemia, Fetal hemoglobin quantitative trait locus 1 |
| RS33958176 |
IGF1R
|
Health Risk |
Conflicting classifications of pathogenicity |
Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder |
| RS33958358 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN SOUTH FLORIDA, beta Thalassemia |
| RS33959340 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN BARCELONA, Erythrocytosis |
| RS33959855 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN D (IRAN), HEMOGLOBIN E (SASKATOON) |
| RS33960103 |
HBB
|
Health Risk |
Likely pathogenic |
beta Thalassemia, Hb SS disease |
| RS33960522 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN RUSS, HEMOGLOBIN RUSS |
| RS33960931 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN COLIMA, HEMOGLOBIN COLIMA |
| RS33961444 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN HIROSHIMA, Erythrocytosis |
| RS33961459 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
HEMOGLOBIN ROCKFORD, 9 conditions |
| RS33961886 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
beta Thalassemia, beta Thalassemia |
| RS33962676 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN J (BALTIMORE), HEMOGLOBIN J (BALTIMORE) |
| RS33964119 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS33964317 |
HBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
alpha Thalassemia, Heinz body anemia |
| RS33965000 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN BRIGHAM, Erythrocytosis |
| RS33965008 |
ATP8B1
|
Health Risk |
Conflicting classifications of pathogenicity |
ATP8B1-related disorder, ATP8B1-related disorder |
| RS33966487 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN BRITISH COLUMBIA, Erythrocytosis |
| RS33966761 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hemoglobinopathy, HEMOGLOBIN YAOUNDE |
| RS33969400 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS33969677 |
HBB
|
Health Risk |
Pathogenic |
HEMOGLOBIN JOHNSTOWN, beta Thalassemia |
| RS33969853 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS33971048 |
HBB
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN CHEMILLY, Erythrocytosis |