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: rs587777593
rs587777593
2 0.925 0.120 1 150496552 missense variant C/T snv 0.800 1.000 2 2014 2016
dbSNP: rs587777594
rs587777594
1 1.000 1 150491665 splice region variant A/G snv 1.2E-05 1.4E-05 0.700 0