| RS276174842 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174843 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174844 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174845 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174846 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174847 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174848 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS276174849 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174851 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174852 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174853 |
BRCA2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS276174854 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174855 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174857 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174858 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174859 |
BRCA2
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome |
| RS276174860 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174861 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174863 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS276174864 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174865 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174866 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174867 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174868 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174871 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174872 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174873 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174874 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174875 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174876 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174877 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174884 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174887 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174889 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174890 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174896 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174897 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174899 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS276174900 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174901 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174902 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174903 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174904 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174906 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS276174907 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174910 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174912 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174913 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174914 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174915 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS276174916 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS276174918 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174923 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS276174925 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS276174926 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174929 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174930 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS276174931 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2763979 |
HSPA1B
|
Health Risk |
association |
Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |
| RS2767471 |
ATAD3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Harel-Yoon syndrome, Pontocerebellar hypoplasia |
| RS277995 |
MCCC2
|
Health Risk |
Pathogenic/Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder |
| RS2797436 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2 |
| RS279836 |
GABRA2
|
Health Risk |
risk factor |
Alcoholism, susceptibility to |
| RS279845 |
GABRA2
|
Health Risk |
risk factor |
Alcoholism, susceptibility to |
| RS279871 |
GABRA2
|
Health Risk |
risk factor |
Alcoholism, susceptibility to |
| RS2799068 |
AGRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myasthenic syndrome 8, AGRN-related disorder |
| RS2808001 |
TUBB2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 5, Inborn genetic diseases |
| RS281165933 |
ZNF469
|
Health Risk |
Conflicting classifications of pathogenicity |
Brittle cornea syndrome 1, Cardiovascular phenotype |
| RS2814778 |
ACKR1
|
Health Risk |
Pathogenic |
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE |
| RS2815822 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS281797258 |
MKKS
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS281797259 |
MKKS
|
Health Risk |
Pathogenic |
BARDET-BIEDL SYNDROME 2/6, DIGENIC |
| RS281797260 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS281860263 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS281860265 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS281860266 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS281860267 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS281860268 |
CSF1R
|
Health Risk |
Pathogenic |
— |
| RS281860269 |
CSF1R
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy |
| RS281860271 |
CSF1R
|
Health Risk |
Pathogenic |
— |
| RS281860274 |
CSF1R
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder |
| RS281860275 |
CSF1R
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS281860277 |
CSF1R
|
Health Risk |
Likely pathogenic |
CSF1R-related leukoencephalopathy, CSF1R-related leukoencephalopathy |
| RS281860278 |
CSF1R
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy |
| RS281860279 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS281860281 |
CSF1R
|
Health Risk |
Likely pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Brain abnormalities |
| RS281860284 |
SLC30A10
|
Health Risk |
Pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860285 |
SLC30A10
|
Health Risk |
Pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860287 |
SLC30A10
|
Health Risk |
Pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860288 |
SLC30A10
|
Health Risk |
Pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860290 |
SLC30A10
|
Health Risk |
Likely pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860292 |
SLC30A10
|
Health Risk |
Pathogenic |
Hypermanganesemia with dystonia, polycythemia |
| RS281860296 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS281860302 |
FGF3
|
Health Risk |
Pathogenic |
Deafness with labyrinthine aplasia, microtia |
| RS281860303 |
FGF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Deafness with labyrinthine aplasia, microtia |
| RS281860305 |
FGF3
|
Health Risk |
Pathogenic |
Deafness with labyrinthine aplasia, microtia |
| RS281860306 |
FGF3
|
Health Risk |
Pathogenic |
Deafness with labyrinthine aplasia, microtia |
| RS281860307 |
FGF3
|
Health Risk |
Pathogenic |
Deafness with labyrinthine aplasia, microtia |
| RS281860601 |
HBG1
|
Health Risk |
Pathogenic |
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS281860607 |
HBA2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |