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: rs113993967
rs113993967
5 0.851 0.240 3 189868597 missense variant G/A snv 0.020 1.000 2 2007 2018
dbSNP: rs1173679499
rs1173679499
5 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121908835
rs121908835
3 0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908836
rs121908836
2 0.925 0.160 3 189864380 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs573154688
rs573154688
3 1.000 0.160 17 7670711 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs765502786
rs765502786
1 1.000 0.160 3 189869330 missense variant G/A snv 1.2E-05 0.010 1.000 1 2001 2001