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: rs1260326
rs1260326
25 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 4 2010 2019
dbSNP: rs780092
rs780092
5 0.827 0.160 2 27520287 intron variant A/G snv 0.18 0.800 1.000 1 2013 2017
dbSNP: rs780093
rs780093
13 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.800 1.000 1 2012 2019
dbSNP: rs780094
rs780094
24 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 1 2012 2019
dbSNP: rs780090
rs780090
4 0.925 0.120 2 27495607 upstream gene variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs814295
rs814295
5 0.925 0.120 2 27520348 intron variant A/G snv 0.18 0.700 1.000 1 2012 2012