FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
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: rs1131690826
rs1131690826
1.000 0.040 17 17221628 stop gained C/T snv
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs368778627
rs368778627
0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs587782069
rs587782069
0.925 0.120 17 17224041 stop gained G/A snv
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
Respiratory Tract Diseases 0.010 1.000 1 2013 2013