rs797045172, 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 161853324 splice donor variant G/C snv 4.0E-06 0.700 1.000 1 2015 2015
ACHROMATOPSIA 7
CUI: C4225297
Disease: ACHROMATOPSIA 7
10 0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06 0.700 1.000 1 2015 2015