| RS72552733 |
SLC22A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552734 |
SLC22A5
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552735 |
SLC22A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552743 |
CYP21A2
|
Health Risk |
Pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS72552754 |
CYP21A2
|
Health Risk |
Pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS72552755 |
CYP21A2
|
Health Risk |
Pathogenic |
CYP21A2-related disorder, CYP21A2-related disorder |
| RS72552757 |
CYP21A2
|
Health Risk |
Pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS72552758 |
CYP21A2
|
Health Risk |
Pathogenic/Likely pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS72552771 |
POR
|
Health Risk |
Pathogenic |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72552772 |
POR
|
Health Risk |
Pathogenic |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72552775 |
ABCB4
|
Health Risk |
Likely pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS72552778 |
ABCB4
|
Health Risk |
Pathogenic/Likely pathogenic |
Low phospholipid associated cholelithiasis, Cholestasis |
| RS72552780 |
ABCB4
|
Health Risk |
Pathogenic |
Cholestasis, intrahepatic |
| RS72553875 |
TNFRSF13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency, common variable |
| RS72553876 |
TNFRSF13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency, common variable |
| RS72553877 |
TNFRSF13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency, common variable |
| RS72553878 |
TNFRSF13B
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS72553879 |
TNFRSF13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency, common variable |
| RS72553882 |
TNFRSF13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency, common variable |
| RS72553883 |
TNFRSF13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency, common variable |
| RS72553885 |
TNFRSF13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency, common variable |
| RS72554028 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS72554056 |
CASQ2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype |
| RS72554069 |
CASQ2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS72554070 |
CASQ2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS72554078 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young, KCNJ11-related disorder |
| RS72554303 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554304 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554305 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554306 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554307 |
OTC
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554308 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554309 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554310 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554311 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554312 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554313 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554314 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554315 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554317 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554318 |
OTC
|
Health Risk |
Likely pathogenic |
— |
| RS72554319 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554320 |
OTC
|
Health Risk |
Likely pathogenic |
— |
| RS72554321 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554322 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554323 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases |
| RS72554325 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554326 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554327 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554329 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554330 |
OTC
|
Health Risk |
Pathogenic |
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS72554331 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554332 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554333 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554334 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554335 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554336 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554337 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554338 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554339 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554340 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554341 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554342 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554343 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554344 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554345 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554346 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554347 |
OTC
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554349 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554350 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554351 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554352 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554353 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554354 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554355 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72554357 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72554359 |
OTC
|
Health Risk |
Pathogenic |
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS72554620 |
CYP7B1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3 |
| RS72554626 |
CYP11B2
|
Health Risk |
Likely pathogenic |
Corticosterone methyloxidase type 2 deficiency, CYP11B2-related disorder |
| RS72554627 |
CYP11B2
|
Health Risk |
Pathogenic |
Corticosterone 18-monooxygenase deficiency, Corticosterone 18-monooxygenase deficiency |
| RS72554632 |
MAOA
|
Health Risk |
Pathogenic |
Brunner syndrome, Brunner syndrome |
| RS72554634 |
ABCB7
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia |
| RS72554635 |
ATP7A
|
Health Risk |
Pathogenic |
X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome |
| RS72554636 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Menkes kinky-hair syndrome, Cutis laxa |
| RS72554638 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cutis laxa, X-linked |
| RS72554639 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS72554640 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS72554644 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS72554645 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3 |
| RS72554649 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3 |
| RS72554650 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS72554652 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS72554658 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS72554659 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin deficiency, partial |
| RS72554664 |
G6PD
|
Health Risk |
Pathogenic |
G6PD KAIPING, G6PD DHON |
| RS72554665 |
G6PD
|
Health Risk |
Likely pathogenic |
G6PD CANTON, G6PD GIFU |
| RS72555358 |
GLB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS72555359 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS72555360 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS72555361 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |