rs797045171, ATF6

N. diseases: 2
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.
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
63 0.925 0.120 1 161784094 frameshift variant C/- delins 0.700 1.000 1 2015 2015
ACHROMATOPSIA 7
CUI: C4225297
Disease: ACHROMATOPSIA 7
10 0.925 0.120 1 161784094 frameshift variant C/- delins 0.700 1.000 1 2015 2015