Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10071761
rs10071761 		0.925 0.080 5 40415509 intron variant T/C snv 0.31
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs10905875
rs10905875
LOC101928080
0.925 0.080 10 6131814 intergenic variant G/A;C snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs11299600
rs11299600 		0.925 0.080 8 128192327 regulatory region variant A/- delins 0.29
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs116041786
rs116041786
HLA-DQA1
0.925 0.080 6 32634619 intron variant C/T snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs12257092
rs12257092 		0.925 0.080 10 89023070 intergenic variant A/T snv 0.27
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1244181
rs1244181
GATA3
0.925 0.080 10 8049414 intron variant A/C;G snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs12967678
rs12967678
PTPN2
0.925 0.080 18 12805389 intron variant G/A snv 8.0E-02
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs146583707
rs146583707 		0.925 0.080 4 122571262 intergenic variant T/A snv 0.20
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs16862780
rs16862780
LINC01991
0.925 0.080 3 187970052 intron variant G/A;T snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs2136613
rs2136613
EGR2
0.925 0.080 10 62834404 intron variant C/G;T snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs2210913
rs2210913
FCRL3
0.925 0.080 1 157699203 intron variant C/T snv 0.56
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs34069391
rs34069391
CLEC16A
0.925 0.080 16 11067358 intron variant T/- delins
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs4565870
rs4565870 		0.925 0.080 11 46328319 upstream gene variant T/C snv 0.43
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs67257959
rs67257959 		0.925 0.080 19 17047335 upstream gene variant T/A;C snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs7773987
rs7773987
AHI1
0.925 0.080 6 135386348 intron variant C/T snv 0.60
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs80168506
rs80168506
LOC107985981
0.925 0.080 2 213196729 intergenic variant A/G snv 5.1E-02
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs8071789
rs8071789
IKZF3
0.925 0.080 17 39850080 intron variant C/T snv 0.47
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs9831894
rs9831894
CD86
0.882 0.120 3 122081640 intron variant A/C snv 0.31
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 1.000 1 2006 2006
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs778986
rs778986
FUT3
1.000 0.080 19 5844526 missense variant A/G snv 0.84 0.84
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs812936
rs812936
FUT3
1.000 0.080 19 5844638 missense variant G/A;C snv 0.83
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 1.000 1 2016 2016