rs886039814, WDR19

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Caroli Disease
CUI: C0162510
Disease: Caroli Disease
1 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Delayed myelination
CUI: C1277241
Disease: Delayed myelination
6 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Echogenic kidneys
CUI: C3549567
Disease: Echogenic kidneys
2 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
SENIOR-LOKEN SYNDROME 8
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
15 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Small eyes
CUI: C1837464
Disease: Small eyes
1 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
12 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0