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: rs61042368
rs61042368 		2 0.925 0.040 X 154527122 downstream gene variant G/A snv 3.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
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: 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: rs9658676
rs9658676
ACTA2 ; FAS
1 1.000 0.040 10 88990441 non coding transcript exon variant C/A snv 2.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs9624472
rs9624472
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.040 22 24438763 splice region variant A/G snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1801704
rs1801704
ADRB2
3 0.882 0.200 5 148826812 5 prime UTR variant C/T snv 0.68 0.68 0.010 1.000 1 2013 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: rs777919630
rs777919630
CBS
39 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3211938
rs3211938
CD36
3 0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1126535
rs1126535
CD40LG
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
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: 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: 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: rs563558831
rs563558831
CYP2B6
11 0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs557754092
rs557754092
DDT ; DDTL
1 1.000 0.040 22 23971554 missense variant T/G snv 9.1E-04; 4.0E-06 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs1466161664
rs1466161664
DHFR
1 1.000 0.040 5 80633925 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
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: 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: 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: 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