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: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2016 2016
dbSNP: rs757511141
rs757511141
DDX54 ; RITA1
2 0.925 0.080 12 113186886 missense variant C/G snv 8.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs11196418
rs11196418
CASP7
4 0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445
CASP7
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs10850382
rs10850382
LOC107984437
1 1.000 0.080 12 114776743 downstream gene variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs142459060
rs142459060
EXT1
1 1.000 0.080 8 117816659 intron variant T/C snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2015
dbSNP: rs1045242
rs1045242
TNFAIP8
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.020 1.000 2 2011 2013
dbSNP: rs121913476
rs121913476
FGFR2
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs1438956733
rs1438956733
FGFR2
2 0.925 0.080 10 121515180 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs55745510
rs55745510
FGFR2
2 0.925 0.080 10 121520039 synonymous variant G/A snv 7.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs121918497
rs121918497
FGFR2
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 1 2011 2011
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2960422
rs2960422
PPARG
2 1.000 0.080 3 12293492 intron variant G/A snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs2479106
rs2479106
DENND1A
4 0.851 0.120 9 123762933 intron variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs2747716
rs2747716
LINC02523 ; LOC105377986
1 1.000 0.080 6 125687226 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2797160
rs2797160
LINC02523 ; LOC105377986
1 1.000 0.080 6 125688970 intron variant A/G snv 0.48 0.700 1.000 1 2016 2016