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: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs542998
rs542998
RTN3
1 1.000 0.040 11 63719914 missense variant T/A;C snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs559063155
rs559063155
SF3B1
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 < 0.001 1 2017 2017
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs775910328
rs775910328
TLR4
3 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs776035233
rs776035233
LCAT
5 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs866082104
rs866082104
ABCB7
3 0.925 0.120 X 75053456 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057516674
rs1057516674
G6PC
5 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
dbSNP: rs1057520529
rs1057520529
FOXP3
5 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1060499688
rs1060499688
GNPTAB
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1554544862
rs1554544862
ANK1
1 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 0.700 0
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs41469945
rs41469945
HBA2
3 0.925 0.080 16 173581 missense variant T/C;G snv 0.700 0
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
dbSNP: rs1196547982
rs1196547982
TLR2
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 1997 2018
dbSNP: rs1470452230
rs1470452230
PAEP
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs377001714
rs377001714
PGK1
2 1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs779114194
rs779114194
LCAT
4 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs368002262
rs368002262
GPI
1 1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2010 2010