Source: BEFREE ×
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.020 0.500 2 2006 2013
dbSNP: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 1 2012 2013
dbSNP: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
14 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 < 0.001 1 2019 2019
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs147689373
rs147689373
PKLR
2 0.925 0.160 1 155294618 missense variant C/T snv 6.9E-04 2.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
MTHFR
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1801274
rs1801274
FCGR2A
41 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2274567
rs2274567
CR1
9 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs2296160
rs2296160
CR1
1 0.925 0.120 1 207621975 missense variant A/G snv 0.82 0.81 0.010 < 0.001 1 2015 2015
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
10 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3933769
rs3933769
FCGR2C
1 1.000 0.040 1 161589537 intron variant A/G snv 0.74 0.70 0.010 1.000 1 2016 2016
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs4844600
rs4844600
CR1
1 1.000 0.040 1 207505962 missense variant A/C;G snv 5.2E-05; 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs5030738
rs5030738
FCGR3B
1 1.000 0.040 1 161629864 missense variant G/A;T snv 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs505151
rs505151
PCSK9
15 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2018 2018
dbSNP: rs9429942
rs9429942
CR1
2 0.925 0.080 1 207495285 upstream gene variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs200463093
rs200463093
SP110
1 1.000 0.040 2 230170675 synonymous variant T/C snv 2.5E-04; 4.0E-06 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs2856838
rs2856838
IL1A
4 0.851 0.200 2 112782395 intron variant G/A snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs549858786
rs549858786
IL1B
10 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2012 2012