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: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.900 1.000 17 2007 2018
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.770 1.000 9 2008 2019
dbSNP: rs6547692
rs6547692
3 1.000 0.080 2 27512105 intron variant G/A snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs3817588
rs3817588
7 0.882 0.160 2 27508345 intron variant T/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs780092
rs780092
10 0.827 0.160 2 27520287 intron variant A/G snv 0.18 0.010 1.000 1 2016 2016