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: rs9390459
rs9390459
STXBP5
2 6 147359223 synonymous variant A/G snv 0.53 0.55 0.700 1.000 1 2010 2010
dbSNP: rs9805933
rs9805933 		1 14 44551736 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs6532796
rs6532796
LOC100507053
2 1.000 0.040 4 99121091 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs7935829
rs7935829
MS4A6A
3 1.000 0.080 11 60175342 intron variant A/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs8176704
rs8176704
ABO
5 0.925 0.080 9 133260148 intron variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.800 1.000 2 2010 2019
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2019 2019