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: 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: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.800 1.000 1 2012 2012
dbSNP: rs6755404
rs6755404
ZNF804A
1 1.000 0.040 2 184932501 intron variant A/C snv 0.82 0.800 1.000 1 2013 2013
dbSNP: rs1801274
rs1801274
FCGR2A
46 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: 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: 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: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12405994
rs12405994
LOC105378806
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
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: 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: rs11213630
rs11213630 		1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
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: rs12788102
rs12788102
MMP26 ; OR51F1
2 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs12808215
rs12808215
MMP26
1 1.000 0.040 11 4786742 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs144312179
rs144312179
FAM155A
1 1.000 0.040 13 107575665 intron variant A/G snv 7.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs1469170
rs1469170 		1 1.000 0.040 11 110870290 intergenic variant A/G snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17228176
rs17228176
MMP26
2 1.000 0.040 11 4790570 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17728971
rs17728971 		1 1.000 0.040 14 45998628 intron variant A/G snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs186873296
rs186873296 		1 1.000 0.040 4 143781321 intron variant A/G snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs2274567
rs2274567
CR1
10 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
2 0.925 0.120 1 207621975 missense variant A/G snv 0.82 0.81 0.010 < 0.001 1 2015 2015
dbSNP: rs316414
rs316414 		1 1.000 0.040 5 43004178 downstream gene variant A/G snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs34166473
rs34166473
HBD
6 0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015