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: rs2330991
rs2330991
1 1.000 0.040 22 25229562 missense variant C/T snv 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs758842039
rs758842039
1 1.000 0.040 22 25221431 start lost T/C snv 4.0E-06 0.010 1.000 1 2011 2011