FLG, filaggrin, 2312

N. diseases: 173; N. variants: 39
Disease: Asthma ×
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: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.780 1.000 12 2007 2019
dbSNP: rs11584340
rs11584340 		0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs138726443
rs138726443 		0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs150597413
rs150597413 		0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs71626704
rs71626704 		0.925 0.120 1 152308841 missense variant G/T snv 2.3E-02 1.6E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs76413899
rs76413899 		0.925 0.120 1 152312377 missense variant C/T snv 2.4E-03 9.0E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017