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: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2005 2005
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2018 2018
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2017 2017
dbSNP: rs7251432
rs7251432
HAMP
2 0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 < 0.001 1 2017 2017
dbSNP: rs835576
rs835576
NOTCH2
2 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs916145
rs916145
USF2
2 0.925 0.080 19 35276981 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008