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: rs121913477
rs121913477
2 1.000 0.120 10 121515289 missense variant G/C;T snv 0.700 1.000 2 2011 2014
dbSNP: rs121913478
rs121913478
13 0.708 0.640 10 121515280 missense variant T/C snv 0.700 1.000 2 2011 2014
dbSNP: rs79184941
rs79184941
18 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs1057519854
rs1057519854
5 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519901
rs1057519901
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2007 2007
dbSNP: rs1057520027
rs1057520027
1 10 121488005 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs1057520028
rs1057520028
1 10 121515283 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs1057520029
rs1057520029
1 0.925 0.120 10 121488003 missense variant T/A snv 0.700 1.000 1 2007 2007
dbSNP: rs121913475
rs121913475
1 10 121519989 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs387906678
rs387906678
5 0.851 0.120 10 121515263 missense variant A/C;G snv 0.700 1.000 1 2014 2014