rs140451304, CFAP410

N. diseases: 3
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.
Spondylometaphyseal dysplasia, axial
CUI: C1865695
Disease: Spondylometaphyseal dysplasia, axial
8 0.882 0.120 21 44333188 missense variant C/G;T snv 3.1E-04; 8.2E-06 0.800 1.000 4 2015 2017
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.882 0.120 21 44333188 missense variant C/G;T snv 3.1E-04; 8.2E-06 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.120 21 44333188 missense variant C/G;T snv 3.1E-04; 8.2E-06 0.700 0