rs183758503, SPAG17

N. diseases: 5
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.
Congenital anomaly of brain
CUI: C0266449
Disease: Congenital anomaly of brain
7 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.710 1.000 1 2018 2018
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.700 0
CRANIOECTODERMAL DYSPLASIA 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
17 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.700 0
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.010 1.000 1 2018 2018
CRANIOECTODERMAL DYSPLASIA 1
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
12 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.010 1.000 1 2018 2018