rs137852929

Orientation

minus

Stabilized

minus

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

Make rs137852929(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

17215228

Gene

FLCN

is a	snp
is	mentioned by
dbSNP	rs137852929
dbSNP (classic)	rs137852929
ClinGen	rs137852929
ebi	rs137852929
HLI	rs137852929
Exac	rs137852929
Gnomad	rs137852929
Varsome	rs137852929
LitVar	rs137852929
Map	rs137852929
PheGenI	rs137852929
Biobank	rs137852929
1000 genomes	rs137852929
hgdp	rs137852929
ensembl	rs137852929
geneview	rs137852929
scholar	rs137852929
google	rs137852929
pharmgkb	rs137852929
gwascentral	rs137852929
openSNP	rs137852929
23andMe	rs137852929
SNPshot	rs137852929
SNPdbe	rs137852929
MSV3d	rs137852929
GWAS Ctlg	rs137852929

Max Magnitude

5

OMIM	607273
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852929(A;A) rs137852929(G;G) rs137852929(T;T)
Alt	rs137852929(A;A) rs137852929(G;G) rs137852929(T;T)
Reference	Rs137852929(C;C)
Significance	Pathogenic
Disease	Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	FLCN LOC101928660
CLNDBN	Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.17118542G>A; NC_000017.10:g.17118542G>C; NC_000017.10:g.17118542G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000225850.1, RCV000003534.3, RCV000166580.2, RCV000255586.2, RCV000239639.1, RCV000492426.1,