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: rs201477273
rs201477273
5 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 7 2008 2017
dbSNP: rs119467003
rs119467003
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.040 1.000 4 2005 2010
dbSNP: rs387907098
rs387907098
2 0.925 0.080 20 2400435 missense variant A/G;T snv 9.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs60449251
rs60449251
2 0.925 0.120 17 44915227 missense variant A/C snv 0.010 1.000 1 2002 2002