FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS ×
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: rs137852929
rs137852929 		0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 1.000 3 2005 2014
dbSNP: rs375082054
rs375082054 		1.000 17 17216395 missense variant G/A;C;T snv 6.9E-05; 8.2E-06; 1.6E-05
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 1.000 3 2005 2008
dbSNP: rs80338682
rs80338682 		0.925 0.080 17 17216395 frameshift variant G/-;GG delins
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 1.000 2 2002 2005
dbSNP: rs398124542
rs398124542 		0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 1.000 1 2005 2005
dbSNP: rs1567807517
rs1567807517 		1.000 17 17215183 splice donor variant A/G snv
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs368778627
rs368778627 		0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs750146811
rs750146811 		0.925 0.080 17 17227900 frameshift variant CGAC/- delins 1.2E-05
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs758175953
rs758175953 		0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs786203218
rs786203218 		0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs879255678
rs879255678 		0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs886037608
rs886037608 		1.000 17 17214987 frameshift variant TCCA/- delins
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs886037609
rs886037609 		1.000 17 17224136 frameshift variant G/- delins
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0
dbSNP: rs886037610
rs886037610 		1.000 17 17217070 frameshift variant GAAGTACTTCAAAAGCTGAC/- delins
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		0.700 0