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: rs11967808
rs11967808
TRIM26
1 1.000 0.040 6 30211411 intron variant G/C snv 3.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs12198173
rs12198173
TNXB
9 0.827 0.240 6 32059031 intron variant G/A snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs12421615
rs12421615
PLCB3
1 1.000 0.040 11 64254133 intron variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs12482904
rs12482904
UBASH3A
1 1.000 0.040 21 42431719 intron variant T/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1264350
rs1264350
LINC00243
2 0.925 0.160 6 30828768 intron variant T/C snv 9.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs1265159
rs1265159
POU5F1
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs12771452
rs12771452
CASP7
1 1.000 0.040 10 113728572 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs13091753
rs13091753
LPP
2 1.000 0.040 3 188396801 intron variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13199524
rs13199524
TNXB
9 0.807 0.240 6 32098988 intron variant C/T snv 8.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs1408944
rs1408944
ZMIZ1
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1417210
rs1417210
SLC29A3
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.810 1.000 1 2013 2013
dbSNP: rs145954018
rs145954018
HLA-DRB9
1 1.000 0.040 6 32472545 intron variant GT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1559810
rs1559810
LPP
2 1.000 0.040 3 188406566 intron variant C/A snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1635168
rs1635168
HERC2
3 1.000 0.040 15 28290120 intron variant A/C snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs16843742
rs16843742
PTPRC
1 1.000 0.040 1 198703170 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17008723
rs17008723
FOXP1
2 0.925 0.040 3 71523984 intron variant T/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs17188127
rs17188127
TRIM15
1 1.000 0.040 6 30167325 intron variant C/T snv 9.9E-03 0.700 1.000 1 2010 2010
dbSNP: rs17195551
rs17195551
ATAT1
1 1.000 0.040 6 30633618 intron variant C/T snv 3.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
3 0.925 0.080 11 89272085 intron variant A/C snv 0.26 0.700 1.000 1 2010 2010