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: rs4984
rs4984
ADD2 ; LOC105374794
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2010 2010
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.818 11 1997 2015
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs2296136
rs2296136
ANKRD16 ; FBH1
1 1.000 0.120 10 5887999 missense variant G/C;T snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs372883
rs372883
BACH1
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs2072392
rs2072392
BID
1 1.000 0.120 22 17743846 synonymous variant A/G snv 2.8E-02 4.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs8190315
rs8190315
BID
5 0.851 0.240 22 17743998 missense variant T/C snv 2.4E-02 3.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1008898
rs1008898
C1GALT1
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1047763
rs1047763
C1GALT1
2 0.925 0.120 7 7243938 3 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs5882115
rs5882115
C1GALT1
1 1.000 0.120 7 7233965 intron variant -/C delins 7.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs761991666
rs761991666
C1GALT1
1 1.000 0.120 7 7234516 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7790522
rs7790522
C1GALT1
1 1.000 0.120 7 7242918 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs4077515
rs4077515
CARD9
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.750 1.000 6 2014 2020
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.020 1.000 2 2011 2011
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2227543
rs2227543
CXCL8
1 1.000 0.120 4 73742193 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2019 2019
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs373544789
rs373544789
FCAR
2 0.925 0.120 19 54889688 missense variant G/A;T snv 8.8E-05; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
dbSNP: rs11264794
rs11264794
FCRL3
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs11264793
rs11264793
FCRL3
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020