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: rs755221106
rs755221106
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.830 1.000 5 2015 2020
dbSNP: rs753614584
rs753614584
1 1.000 17 50618258 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2019 2019