Source: BEFREE

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: rs1477353313
rs1477353313
ACR
0.925 0.120 22 50744085 missense variant T/G snv
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 1.000 1 2004 2004
dbSNP: rs1477353313
rs1477353313
ACR
0.925 0.120 22 50744085 missense variant T/G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2004 2004
dbSNP: rs151269264
rs151269264
ACR ; LOC105373100
0.925 0.200 22 50738307 synonymous variant G/A;C snv 1.6E-05; 6.0E-05
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		0.010 < 0.001 1 2009 2009
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