| RS74315359 |
PINK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315360 |
PINK1
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315361 |
PINK1
|
Health Risk |
risk factor |
Parkinson disease 6, Parkinson disease 6 |
| RS74315362 |
PKLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS74315364 |
RNASEL
|
Health Risk |
Conflicting classifications of pathogenicity |
Prostate cancer, hereditary |
| RS74315365 |
RNASEL
|
Health Risk |
Pathogenic |
Prostate cancer, hereditary |
| RS74315366 |
SDHB
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Hereditary pheochromocytoma and paraganglioma |
| RS74315367 |
SDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Hereditary pheochromocytoma and paraganglioma |
| RS74315368 |
SDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor |
| RS74315369 |
SDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome |
| RS74315370 |
SDHB
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4 |
| RS74315371 |
SDHB
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome |
| RS74315372 |
SDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome |
| RS74315373 |
SLC19A2
|
Health Risk |
Pathogenic |
Megaloblastic anemia, thiamine-responsive |
| RS74315374 |
SLC19A2
|
Health Risk |
Pathogenic |
Megaloblastic anemia, thiamine-responsive |
| RS74315375 |
SLC19A2
|
Health Risk |
Pathogenic |
Megaloblastic anemia, thiamine-responsive |
| RS74315376 |
TBX19
|
Health Risk |
Pathogenic |
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315377 |
TBX19
|
Health Risk |
Pathogenic |
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315378 |
TBX19
|
Health Risk |
Pathogenic |
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315379 |
TNNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy |
| RS74315380 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy |
| RS74315383 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS74315384 |
EDN3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS74315385 |
EDN3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS74315386 |
GDF5
|
Health Risk |
Pathogenic/Likely pathogenic |
Brachydactyly type C, Multiple synostoses syndrome 2 |
| RS74315387 |
GDF5
|
Health Risk |
Likely pathogenic |
Grebe syndrome, Brachydactyly type A1C |
| RS74315388 |
GDF5
|
Health Risk |
Pathogenic |
Symphalangism, proximal |
| RS74315389 |
GDF5
|
Health Risk |
Pathogenic |
Symphalangism, proximal |
| RS74315390 |
KCNQ2
|
Health Risk |
Pathogenic |
Seizures, benign familial neonatal |
| RS74315391 |
KCNQ2
|
Health Risk |
Pathogenic |
Seizures, benign familial neonatal |
| RS74315392 |
KCNQ2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 7 |
| RS74315393 |
MC3R
|
Health Risk |
risk factor |
OBESITY (BMIQ9), SUSCEPTIBILITY TO |
| RS74315394 |
MKKS
|
Health Risk |
Conflicting classifications of pathogenicity |
McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS74315396 |
MKKS
|
Health Risk |
Pathogenic/Likely pathogenic |
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 |
| RS74315397 |
MKKS
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 6, Bardet-Biedl syndrome |
| RS74315398 |
MKKS
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 6, Inborn genetic diseases |
| RS74315399 |
MKKS
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome |
| RS74315401 |
PRNP
|
Health Risk |
Pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1 |
| RS74315402 |
PRNP
|
Health Risk |
Pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases |
| RS74315403 |
PRNP
|
Health Risk |
Pathogenic/Likely pathogenic |
Fatal familial insomnia, Huntington disease-like 1 |
| RS74315405 |
PRNP
|
Health Risk |
Pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1 |
| RS74315406 |
PRNP
|
Health Risk |
Likely pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1 |
| RS74315407 |
PRNP
|
Health Risk |
Pathogenic/Likely pathogenic/Pathogenic, low penetrance |
Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1 |
| RS74315408 |
PRNP
|
Health Risk |
Conflicting classifications of pathogenicity |
Inherited Creutzfeldt-Jakob disease, Inherited prion disease |
| RS74315410 |
PRNP
|
Health Risk |
Likely pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1 |
| RS74315411 |
PRNP
|
Health Risk |
Pathogenic |
Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1 |
| RS74315412 |
PRNP
|
Health Risk |
Pathogenic/Likely pathogenic |
Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1 |
| RS74315413 |
PRNP
|
Health Risk |
Pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Spongiform encephalopathy with neuropsychiatric features |
| RS74315414 |
PRNP
|
Health Risk |
Pathogenic |
Spongiform encephalopathy with neuropsychiatric features, Spongiform encephalopathy with neuropsychiatric features |
| RS74315415 |
PRNP
|
Health Risk |
Pathogenic |
Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome |
| RS74315416 |
PROKR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 3 with or without anosmia, Infertility disorder |
| RS74315417 |
PROKR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS74315418 |
PROKR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 3 with or without anosmia, Amenorrhea |
| RS74315419 |
PROKR2
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS74315420 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315421 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315422 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315423 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315424 |
SALL4
|
Health Risk |
Pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315425 |
SALL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315426 |
SALL4
|
Health Risk |
Pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315427 |
SALL4
|
Health Risk |
Pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315428 |
SALL4
|
Health Risk |
Likely pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315429 |
SALL4
|
Health Risk |
Pathogenic |
Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315430 |
SOX18
|
Health Risk |
Likely pathogenic |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| RS74315431 |
VAPB
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy |
| RS74315433 |
VSX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy |
| RS74315437 |
CLDN14
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment |
| RS74315438 |
CLDN14
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29 |
| RS74315439 |
CRYAA
|
Health Risk |
Pathogenic |
Cataract 9 multiple types, Inborn genetic diseases |
| RS74315440 |
CRYAA
|
Health Risk |
Likely pathogenic |
Cataract 9, autosomal recessive |
| RS74315441 |
CRYAA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 9 multiple types, Congenital portosystemic shunt |
| RS74315442 |
CSTB
|
Health Risk |
Pathogenic |
Unverricht-Lundborg syndrome, 8 conditions |
| RS74315443 |
CSTB
|
Health Risk |
Likely pathogenic |
Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome |
| RS74315444 |
IFNGR2
|
Health Risk |
Pathogenic |
Immunodeficiency 28, Immunodeficiency 28 |
| RS74315445 |
KCNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome 1 |
| RS74315446 |
KCNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 5, Congenital long QT syndrome |
| RS74315447 |
KCNE2
|
Health Risk |
Conflicting classifications of pathogenicity; risk factor |
Long QT syndrome 6, Congenital long QT syndrome |
| RS74315448 |
KCNE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 6, Cardiovascular phenotype |
| RS74315449 |
KCNE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrial fibrillation, familial |
| RS74315450 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS74315451 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS74315452 |
SOD1
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS74315455 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, adult type |
| RS74315456 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Metachromatic leukodystrophy, late infantile form |
| RS74315457 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Metachromatic leukodystrophy, juvenile type |
| RS74315458 |
ARSA
|
Health Risk |
Likely pathogenic |
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET |
| RS74315459 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, late infantile form |
| RS74315460 |
ARSA
|
Health Risk |
Pathogenic |
METACHROMATIC LEUKODYSTROPHY, SEVERE |
| RS74315461 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Inborn genetic diseases |
| RS74315462 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
METACHROMATIC LEUKODYSTROPHY, SEVERE |
| RS74315463 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS74315464 |
ARSA
|
Health Risk |
Conflicting classifications of pathogenicity |
ARYLSULFATASE A PSEUDODEFICIENCY, Metachromatic leukodystrophy |
| RS74315466 |
ARSA
|
Health Risk |
Conflicting classifications of pathogenicity |
ARYLSULFATASE A PSEUDODEFICIENCY, Metachromatic leukodystrophy |
| RS74315467 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS74315468 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS74315470 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Metachromatic leukodystrophy, juvenile type |
| RS74315471 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
METACHROMATIC LEUKODYSTROPHY, SEVERE |
| RS74315472 |
ARSA
|
Health Risk |
Likely pathogenic |
METACHROMATIC LEUKODYSTROPHY, SEVERE |
| RS74315473 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Spastic ataxia |