MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Abdominal Pain ×
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: rs11466023
rs11466023 		0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs224222
rs224222 		0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs28940580
rs28940580 		0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010