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: rs879253779
rs879253779
1 1.000 1 184072258 missense variant A/G snv 0.800 1.000 2 2015 2016
dbSNP: rs879253780
rs879253780
1 1.000 1 184054856 missense variant C/T snv 7.0E-06 0.800 1.000 2 2015 2016
dbSNP: rs730882223
rs730882223
4 0.851 0.120 1 184054736 missense variant T/G snv 0.800 0