rs750146811

Orientation

plus

Stabilized

plus

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

Make rs750146811(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

17227900

Gene

FLCN

is a	snp
is	mentioned by
dbSNP	rs750146811
dbSNP (classic)	rs750146811
ClinGen	rs750146811
ebi	rs750146811
HLI	rs750146811
Exac	rs750146811
Gnomad	rs750146811
Varsome	rs750146811
LitVar	rs750146811
Map	rs750146811
PheGenI	rs750146811
Biobank	rs750146811
1000 genomes	rs750146811
hgdp	rs750146811
ensembl	rs750146811
geneview	rs750146811
scholar	rs750146811
google	rs750146811
pharmgkb	rs750146811
gwascentral	rs750146811
openSNP	rs750146811
23andMe	rs750146811
SNPshot	rs750146811
SNPdbe	rs750146811
MSV3d	rs750146811
GWAS Ctlg	rs750146811

Max Magnitude

5

ClinVar
Risk	rs750146811(-;-)
Alt	rs750146811(-;-)
Reference	Rs750146811(CCGA;CCGA)
Significance	Pathogenic
Disease	Pneumothorax Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided
Variation	info
Gene	FLCN
CLNDBN	Pneumothorax, primary spontaneous Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided
Reversed	0
HGVS	NC_000017.10:g.17131214_17131217delCCGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003538.2, RCV000222354.1, RCV000239626.1, RCV000255605.1,