rs368778627

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Birt-Hogg-Dube Syndrome

Make rs368778627(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

17222501

Gene

FLCN

is a	snp
is	mentioned by
dbSNP	rs368778627
dbSNP (classic)	rs368778627
ClinGen	rs368778627
ebi	rs368778627
HLI	rs368778627
Exac	rs368778627
Gnomad	rs368778627
Varsome	rs368778627
LitVar	rs368778627
Map	rs368778627
PheGenI	rs368778627
Biobank	rs368778627
1000 genomes	rs368778627
hgdp	rs368778627
ensembl	rs368778627
geneview	rs368778627
scholar	rs368778627
google	rs368778627
pharmgkb	rs368778627
gwascentral	rs368778627
openSNP	rs368778627
23andMe	rs368778627
SNPshot	rs368778627
SNPdbe	rs368778627
MSV3d	rs368778627
GWAS Ctlg	rs368778627

Max Magnitude

5

aka c.779G>A (p.Trp260Ter or W260X)

ClinVar
Risk	rs368778627(T;T)
Alt	rs368778627(T;T)
Reference	Rs368778627(C;C)
Significance	Pathogenic
Disease	Pneumothorax
Variation	info
Gene	FLCN
CLNDBN	Pneumothorax, primary spontaneous
Reversed	0
HGVS	NC_000017.10:g.17125815C>T
CLNSRC	ClinVar University of Washington
CLNACC	RCV000148502.1,