Source: ALL
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
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2010 2019
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 4 2010 2017
dbSNP: rs780093
rs780093
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 3 2010 2013
dbSNP: rs11681351
rs11681351
3 0.925 0.120 2 27520556 intron variant G/A snv 0.36 0.700 1.000 2 2010 2013
dbSNP: rs1260320
rs1260320
2 0.925 0.120 2 27499549 intron variant G/A snv 0.45 0.700 1.000 2 2010 2013
dbSNP: rs2293571
rs2293571
3 0.882 0.120 2 27506613 non coding transcript exon variant G/A snv 0.40 0.39 0.700 1.000 2 2010 2013
dbSNP: rs2293572
rs2293572
3 0.925 0.120 2 27505910 intron variant C/G snv 0.39 0.700 1.000 2 2010 2013
dbSNP: rs4425043
rs4425043
3 0.882 0.120 2 27510585 intron variant G/A;T snv 0.700 1.000 2 2010 2013
dbSNP: rs813592
rs813592
3 0.925 0.120 2 27499104 intron variant T/C snv 0.42 0.47 0.700 1.000 2 2010 2013
dbSNP: rs3817588
rs3817588
7 0.882 0.160 2 27508345 intron variant T/C snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs780090
rs780090
4 0.925 0.120 2 27495607 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs780092
rs780092
10 0.827 0.160 2 27520287 intron variant A/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs814295
rs814295
6 0.925 0.120 2 27520348 intron variant A/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs8179252
rs8179252
3 0.882 0.120 2 27523965 downstream gene variant A/C snv 0.37 0.700 1.000 1 2013 2013