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: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs187084
rs187084
12 0.734 0.214 3 52227015 intron variant A/G snp 0.38 0.010 1.000 1 2017 2017
dbSNP: rs352140
rs352140
11 0.744 0.357 3 52222681 synonymous variant C/A,G,T snp 2.0E-05; 0.49 0.46 0.010 1.000 1 2017 2017
dbSNP: rs778985185
rs778985185
1 1.000 0.071 7 55163734 G/A snp 8.0E-06 6.4E-05 0.010 1.000 1 2016 2016