rs151341424, STRA6

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.
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 0.925 0.120 15 74190856 missense variant CC/TT mnv 0.810 1.000 4 2007 2011
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
CUI: C3540845
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
1 0.925 0.120 15 74190856 missense variant CC/TT mnv 0.700 0
Eye Abnormalities
CUI: C0015393
Disease: Eye Abnormalities
3 0.925 0.120 15 74190856 missense variant CC/TT mnv 0.010 1.000 1 2011 2011