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: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs11789898
rs11789898
BRD3
3 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs143873938
rs143873938
FLNA
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
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: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
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: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs760797899
rs760797899
THPO
1 3 184375917 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3786136
rs3786136
RPA1
1 17 1869979 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
4 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs6667202
rs6667202
IL19
4 0.882 0.120 1 206783747 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1553196096
rs1553196096
CDC42
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs780517804
rs780517804
GALE
1 1 23798701 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918552
rs121918552
CYCS
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 2 2014 2019
dbSNP: rs1554800065
rs1554800065
ANKRD26
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs863223318
rs863223318
ANKRD26
2 1.000 0.120 10 27100460 5 prime UTR variant C/T snv 0.700 1.000 1 2019 2019