MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Ankylosing spondylitis ×
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: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.750 1.000 6 2010 2019
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.030 1.000 3 2010 2018
dbSNP: rs11466023
rs11466023 		0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2012 2018
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2010 2017
dbSNP: rs224204
rs224204 		0.882 0.120 16 3246429 non coding transcript exon variant G/A snv 0.46
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019