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: rs61130669
rs61130669
DES
2 0.925 0.160 2 219421511 missense variant G/T snv 0.020 1.000 2 2013 2017