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: rs4646778
rs4646778
1 12 111797979 intron variant C/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2008 2008
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs750891770
rs750891770
1 1 31583538 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs886205
rs886205
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2017 2017