NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
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: rs35829419
rs35829419
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.030 0.667 3 2009 2016
dbSNP: rs10754558
rs10754558
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs10925019
rs10925019
0.925 0.040 1 247432548 intron variant C/T snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs4925648
rs4925648
0.925 0.040 1 247417266 intron variant C/T snv 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2010 2010