| RS104893848 |
LRAT
|
Health Risk |
Pathogenic |
RETINAL DYSTROPHY, EARLY-ONSET SEVERE |
| RS104893849 |
MMAA
|
Health Risk |
Pathogenic |
Methylmalonic aciduria, cblA type |
| RS104893850 |
MSX1
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS104893851 |
MMAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylmalonic aciduria, cblA type |
| RS104893852 |
MSX1
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS104893853 |
MSX1
|
Health Risk |
Pathogenic |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, MSX1-related disorder |
| RS104893855 |
PHOX2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS104893857 |
PITX2
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893858 |
PITX2
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893859 |
PITX2
|
Health Risk |
Conflicting classifications of pathogenicity |
Axenfeld-Rieger syndrome type 1, Inborn genetic diseases |
| RS104893860 |
PITX2
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893861 |
PITX2
|
Health Risk |
Pathogenic |
Anterior segment dysgenesis 4, Anterior segment dysgenesis 4 |
| RS104893862 |
PITX2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ring dermoid of cornea, Anterior segment dysgenesis |
| RS104893863 |
QDPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Dihydropteridine reductase deficiency, Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
| RS104893864 |
QDPR
|
Health Risk |
Pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893865 |
QDPR
|
Health Risk |
Likely pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893866 |
QDPR
|
Health Risk |
Pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893867 |
QDPR
|
Health Risk |
Pathogenic |
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893868 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893869 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893870 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy |
| RS104893871 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893873 |
SLC25A4
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| RS104893874 |
SLC25A4
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| RS104893875 |
SNCA
|
Health Risk |
Pathogenic |
Lewy body dementia, Autosomal dominant Parkinson disease 1 |
| RS104893876 |
SLC25A4
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| RS104893877 |
SNCA
|
Health Risk |
Pathogenic |
Autosomal dominant Parkinson disease 1, Lewy body dementia |
| RS104893878 |
SNCA
|
Health Risk |
Likely pathogenic |
Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1 |
| RS104893879 |
WFS1
|
Health Risk |
Pathogenic |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS104893880 |
WFS1
|
Health Risk |
Pathogenic |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS104893881 |
WFS1
|
Health Risk |
Likely risk allele |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS104893882 |
WFS1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6 |
| RS104893883 |
WFS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 6, Inborn genetic diseases |
| RS104893884 |
FGF10
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital absence of salivary gland, Congenital absence of salivary gland |
| RS104893885 |
FGF10
|
Health Risk |
Pathogenic |
Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS104893886 |
FGF10
|
Health Risk |
Pathogenic |
Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS104893887 |
FGF10
|
Health Risk |
Pathogenic |
Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3 |
| RS104893888 |
FGF10
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital absence of salivary gland, Levy-Hollister syndrome |
| RS104893889 |
FGF10
|
Health Risk |
Pathogenic |
Congenital absence of salivary gland, Congenital absence of salivary gland |
| RS104893891 |
GDNF
|
Health Risk |
risk factor |
Hirschsprung disease, susceptibility to |
| RS104893892 |
GM2A
|
Health Risk |
Pathogenic |
Tay-Sachs disease, variant AB |
| RS104893893 |
IL7R
|
Health Risk |
Pathogenic |
Immunodeficiency 104, Immunodeficiency 104 |
| RS104893894 |
IL7R
|
Health Risk |
Likely pathogenic |
Immunodeficiency 104, Immunodeficiency 104 |
| RS104893895 |
MSX2
|
Health Risk |
Pathogenic |
Craniosynostosis 2, Cranium bifidum occultum |
| RS104893896 |
MSX2
|
Health Risk |
Pathogenic |
Parietal foramina 1, Parietal foramina 1 |
| RS104893897 |
GM2A
|
Health Risk |
Pathogenic |
Tay-Sachs disease, variant AB |
| RS104893898 |
NDUFS4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS104893899 |
NDUFS4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS104893900 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS104893901 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS104893903 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS104893904 |
NKX2-5
|
Health Risk |
Conflicting classifications of pathogenicity |
Tetralogy of Fallot, Congenital heart disease |
| RS104893907 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS104893908 |
NR3C1
|
Health Risk |
Pathogenic |
Glucocorticoid resistance, Glucocorticoid resistance |
| RS104893909 |
NR3C1
|
Health Risk |
Pathogenic |
Glucocorticoid resistance, Glucocorticoid resistance |
| RS104893910 |
NR3C1
|
Health Risk |
Pathogenic |
Glucocorticoid resistance, Glucocorticoid resistance |
| RS104893911 |
NR3C1
|
Health Risk |
Pathogenic |
GLUCOCORTICOID RESISTANCE, ATYPICAL |
| RS104893912 |
NR3C1
|
Health Risk |
Pathogenic |
Glucocorticoid resistance, Glucocorticoid resistance |
| RS104893915 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Atelosteogenesis type II, Diastrophic dysplasia |
| RS104893916 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS104893917 |
SLC26A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4 |
| RS104893918 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4 |
| RS104893919 |
SLC26A2
|
Health Risk |
Pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS104893920 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Achondrogenesis, type IB |
| RS104893921 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, broad bone-platyspondylic variant |
| RS104893922 |
SMN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Werdnig-Hoffmann disease, Spinal muscular atrophy |
| RS104893924 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia |
| RS104893927 |
SMN1
|
Health Risk |
Pathogenic |
Kugelberg-Welander disease, Spinal muscular atrophy |
| RS104893930 |
SMN1
|
Health Risk |
Pathogenic |
Spinal muscular atrophy, type II |
| RS104893931 |
SMN1
|
Health Risk |
Pathogenic |
Kugelberg-Welander disease, Kugelberg-Welander disease |
| RS104893932 |
SMN1
|
Health Risk |
Pathogenic |
Kugelberg-Welander disease, Kugelberg-Welander disease |
| RS104893933 |
SMN1
|
Health Risk |
Pathogenic |
Werdnig-Hoffmann disease, Werdnig-Hoffmann disease |
| RS104893934 |
SMN1
|
Health Risk |
Pathogenic |
Werdnig-Hoffmann disease, Werdnig-Hoffmann disease |
| RS104893935 |
SMN1
|
Health Risk |
Pathogenic |
Werdnig-Hoffmann disease, Spinal muscular atrophy |
| RS104893936 |
SNCB
|
Health Risk |
Pathogenic |
Lewy body dementia, Lewy body dementia |
| RS104893937 |
SNCB
|
Health Risk |
Conflicting classifications of pathogenicity |
Lewy body dementia, SNCB-related disorder |
| RS104893938 |
SPINK1
|
Health Risk |
Pathogenic |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS104893939 |
SPINK1
|
Health Risk |
Pathogenic |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS104893940 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS104893941 |
SQSTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
| RS104893942 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS104893944 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Inborn genetic diseases |
| RS104893945 |
DTNBP1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7 |
| RS104893946 |
ELOVL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Stargardt disease 3, Stargardt disease 3 |
| RS104893947 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS104893948 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS104893950 |
EPM2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lafora disease, Progressive myoclonic epilepsy |
| RS104893951 |
FOXC1
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS104893952 |
FOXC1
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS104893953 |
FOXC1
|
Health Risk |
Pathogenic |
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS104893954 |
FOXC1
|
Health Risk |
Pathogenic |
Anterior segment dysgenesis 3, Anterior segment dysgenesis 3 |
| RS104893955 |
EPM2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1 |
| RS104893956 |
ESR1
|
Health Risk |
Pathogenic |
Estrogen resistance syndrome, Estrogen resistance syndrome |
| RS104893957 |
FOXC1
|
Health Risk |
Pathogenic |
Anterior segment dysgenesis 3, Axenfeld-Rieger syndrome type 3 |
| RS104893958 |
FOXC1
|
Health Risk |
Pathogenic |
Anterior segment dysgenesis 3, Anterior segment dysgenesis 3 |
| RS104893959 |
GCM2
|
Health Risk |
Pathogenic |
Hypoparathyroidism, familial isolated |
| RS104893960 |
GCM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypoparathyroidism, familial isolated |
| RS104893961 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS104893962 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS104893963 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, autosomal recessive |