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: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2011 2011
dbSNP: rs3805455
rs3805455
GABRP
2 0.925 0.160 5 170813490 3 prime UTR variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs4581
rs4581
APOH
5 0.851 0.160 17 66214639 missense variant C/A;G snv 0.38; 4.0E-06; 4.0E-06 0.36 0.010 1.000 1 2015 2015
dbSNP: rs548234
rs548234
ATG5
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2016 2016
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 2009 2009
dbSNP: rs741761
rs741761
SEMA7A ; MIR6881
3 0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 0.010 1.000 1 2019 2019
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2013 2013
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs929763
rs929763
GABRP ; LOC107986475
2 0.925 0.160 5 170783993 intron variant A/T snv 0.72 0.010 1.000 1 2015 2015