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: rs10437048
rs10437048
PADI4
1 1.000 0.080 1 17356224 intron variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs10953615
rs10953615 		1 1.000 0.080 7 109512654 intergenic variant A/G snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs121918714
rs121918714
TGFBR2
1 1.000 0.080 3 30691471 missense variant G/C snv 0.710 1.000 1 2000 2000
dbSNP: rs13294589
rs13294589 		1 1.000 0.080 9 26694890 intergenic variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2477134
rs2477134
PADI4
1 1.000 0.080 1 17307077 upstream gene variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2501796
rs2501796
PADI4
1 1.000 0.080 1 17307027 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs41265997
rs41265997
PADI4
1 1.000 0.080 1 17342111 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs4924935
rs4924935
PRPSAP2
1 1.000 0.080 17 18850557 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10088262
rs10088262
LOC105375739
2 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs41557518
rs41557518
HLA-G
2 0.925 0.080 6 29828658 frameshift variant C/- delins 2.9E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs121912967
rs121912967
DCC
2 0.925 0.080 18 52906134 missense variant T/C snv 0.700 0
dbSNP: rs3829868
rs3829868
CRNN ; FLG-AS1
2 0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15 0.700 0
dbSNP: rs1014867
rs1014867
FAT4
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1039808
rs1039808
FAT4
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1057519900
rs1057519900
FGFR2
3 0.882 0.120 10 121515259 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs11125529
rs11125529
ACYP2
3 0.882 0.280 2 54248729 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12508222
rs12508222
FAT4
3 0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs1567047
rs1567047
FAT4
3 0.925 0.080 4 125451587 missense variant G/A snv 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2320615
rs2320615
NAF1
3 0.925 0.080 4 163148797 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs312986
rs312986 		3 0.925 0.080 18 1898710 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs31564
rs31564
IL9
3 0.925 0.080 5 135894564 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4269383
rs4269383
LOC101928923 ; LOC105378072
3 0.882 0.120 6 155876368 intergenic variant A/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs583522
rs583522
TNFAIP3 ; WAKMAR2
3 0.925 0.080 6 137868747 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7436
rs7436
COL6A3
3 0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs750408412
rs750408412
CYP2E1
3 0.925 0.080 10 133538938 missense variant A/G snv 0.010 1.000 1 2005 2005