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rs398124533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Birt-Hogg-Dube Syndrome
Make rs398124533(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position17226324
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124533
dbSNP (classic)rs398124533
ClinGenrs398124533
ebirs398124533
HLIrs398124533
Exacrs398124533
Gnomadrs398124533
Varsomers398124533
LitVarrs398124533
Maprs398124533
PheGenIrs398124533
Biobankrs398124533
1000 genomesrs398124533
hgdprs398124533
ensemblrs398124533
geneviewrs398124533
scholarrs398124533
googlers398124533
pharmgkbrs398124533
gwascentralrs398124533
openSNPrs398124533
23andMers398124533
SNPshotrs398124533
SNPdbers398124533
MSV3drs398124533
GWAS Ctlgrs398124533
Max Magnitude5
ClinVar
Risk rs398124533(G;G)
Alt rs398124533(G;G)
Reference Rs398124533(A;A)
Significance Pathogenic
Disease not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome
Variation info
Gene FLCN
CLNDBN not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.17129638T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000082633.6, RCV000239670.2, RCV000492149.1,