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: rs586178
rs586178
4 1 25420739 missense variant G/A;C snv 8.4E-05; 0.41 0.700 1.000 2 2015 2018
dbSNP: rs28695210
rs28695210
1 1 25422778 intron variant G/A snv 5.9E-02 0.700 1.000 1 2019 2019