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: rs3747207
rs3747207
7 22 43928975 intron variant G/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs738408
rs738408
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2019 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.700 1.000 1 2017 2017