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: rs679899
rs679899
7 0.925 0.080 2 21028042 missense variant G/A snv 0.49 0.39 0.700 1.000 1 2012 2012
dbSNP: rs10199768
rs10199768
5 2 21021128 intron variant G/T snv 0.35 0.800 1.000 2 2011 2012
dbSNP: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 8 2010 2019
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.800 1.000 7 2007 2019