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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2017 2017
dbSNP: rs702764
rs702764
4 0.925 0.120 8 53229597 synonymous variant T/C;G snv 0.17; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs732636
rs732636
1 1.000 0.120 7 4195719 intron variant A/G snv 0.010 1.000 1 2015 2015