P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1718119
rs1718119
0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.020 1.000 2 2017 2019
dbSNP: rs3751143
rs3751143
0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.020 1.000 2 2013 2019