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: rs1949829
rs1949829 		0.925 0.200 7 51470190 upstream gene variant C/T snv 0.12
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.800 1.000 1 2013 2013
dbSNP: rs26595
rs26595 		0.925 0.200 5 116423793 intergenic variant G/A;T snv
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.800 1.000 1 2013 2013
dbSNP: rs595018
rs595018
LOC105369322
0.925 0.200 11 60824803 upstream gene variant T/A;C snv
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.800 1.000 1 2013 2013
dbSNP: rs7503953
rs7503953 		0.882 0.320 17 6238357 intergenic variant A/C snv 0.81
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.800 1.000 1 2013 2013
dbSNP: rs9277554
rs9277554
HLA-DPB1
0.790 0.520 6 33087761 3 prime UTR variant C/T snv 0.38
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.800 1.000 1 2013 2013
dbSNP: rs9277341
rs9277341
HLA-DPA1
0.882 0.280 6 33071848 intron variant T/A;C snv
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.700 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.030 0.667 3 2011 2012
dbSNP: rs10548957
rs10548957
RXRB
0.925 0.200 6 33195861 non coding transcript exon variant AG/- delins
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2006 2006
dbSNP: rs118099717
rs118099717
CDS1
0.925 0.200 4 84604268 missense variant G/C snv 1.2E-03 9.1E-04
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2002 2002
dbSNP: rs151269264
rs151269264
ACR ; LOC105373100
0.925 0.200 22 50738307 synonymous variant G/A;C snv 1.6E-05; 6.0E-05
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 < 0.001 1 2009 2009
dbSNP: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 < 0.001 1 2006 2006
dbSNP: rs3117242
rs3117242 		0.925 0.200 6 33102116 upstream gene variant A/G snv 0.34
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2017 2017
dbSNP: rs42041
rs42041
CDK6
0.882 0.280 7 92617430 intron variant C/G snv 0.21
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 < 0.001 1 2010 2010
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2018 2018
dbSNP: rs6531
rs6531
RXRB
0.925 0.200 6 33195674 synonymous variant G/A snv 0.77 0.77
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2006 2006
dbSNP: rs6922466
rs6922466 		0.882 0.240 6 138123793 regulatory region variant A/G snv 0.21
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 < 0.001 1 2010 2010
dbSNP: rs730881997
rs730881997
TP53
0.925 0.200 17 7675999 missense variant A/C;T snv 8.0E-06
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 < 0.001 1 2009 2009
dbSNP: rs763361
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.010 1.000 1 2013 2013