Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7943316
rs7943316
CAT
0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.010 1.000 1 2018 2018