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: rs754100400
rs754100400
2 0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 0.010 1.000 1 2018 2018