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rs758175953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5 Birt-Hogg-Dube Syndrome
Make rs758175953(A;A)
Make rs758175953(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position17222500
GeneFLCN
is asnp
is mentioned by
dbSNPrs758175953
dbSNP (classic)rs758175953
ClinGenrs758175953
ebirs758175953
HLIrs758175953
Exacrs758175953
Gnomadrs758175953
Varsomers758175953
LitVarrs758175953
Maprs758175953
PheGenIrs758175953
Biobankrs758175953
1000 genomesrs758175953
hgdprs758175953
ensemblrs758175953
geneviewrs758175953
scholarrs758175953
googlers758175953
pharmgkbrs758175953
gwascentralrs758175953
openSNPrs758175953
23andMers758175953
SNPshotrs758175953
SNPdbers758175953
MSV3drs758175953
GWAS Ctlgrs758175953
Max Magnitude5
ClinVar
Risk rs758175953(A;A)
Alt rs758175953(A;A)
Reference Rs758175953(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided
Variation info
Gene FLCN
CLNDBN Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided
Reversed 0
HGVS NC_000017.10:g.17125814C>A; NC_000017.10:g.17125814C>G
CLNSRC
CLNACC RCV000218992.2, RCV000239675.1, RCV000255322.1, RCV000492125.1,