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: rs1871054
rs1871054
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.040 0.750 4 2009 2017
dbSNP: rs3740199
rs3740199
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.030 1.000 3 2009 2017
dbSNP: rs1044122
rs1044122
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1278279
rs1278279
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017