Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554985722
rs1554985722
PAX6
2 0.925 0.200 11 31802714 missense variant C/G snv 0.700 1.000 1 2017 2017