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: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2011 2011
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs11141915
rs11141915
DAPK1
3 0.882 0.160 9 87620879 intron variant A/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11719165
rs11719165 		2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs117506642
rs117506642
LOC105376755
2 1.000 0.040 2 195143585 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117829974
rs117829974 		2 1.000 0.040 3 62886233 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12046844
rs12046844 		2 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs12117530
rs12117530
FCGR2B
2 0.925 0.120 1 161674194 non coding transcript exon variant G/T snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1218899764
rs1218899764
DPYD
1 1.000 0.040 1 97515829 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs12720066
rs12720066
ABCB1
2 0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs12934241
rs12934241
MMP2
2 0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1321402467
rs1321402467
ESR1
2 0.925 0.080 6 151808327 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1326123837
rs1326123837
SLC37A4 ; TRAPPC4
2 0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs149104283
rs149104283
SLCO1B3-SLCO1B7
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1610696
rs1610696
HLA-G
2 0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs16957920
rs16957920 		1 1.000 0.040 13 87710848 intergenic variant G/C snv 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs17501331
rs17501331
ABCC1
2 0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009