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rs398124534

From SNPedia

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


Make rs398124534(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position17226276
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124534
dbSNP (classic)rs398124534
ClinGenrs398124534
ebirs398124534
HLIrs398124534
Exacrs398124534
Gnomadrs398124534
Varsomers398124534
LitVarrs398124534
Maprs398124534
PheGenIrs398124534
Biobankrs398124534
1000 genomesrs398124534
hgdprs398124534
ensemblrs398124534
geneviewrs398124534
scholarrs398124534
googlers398124534
pharmgkbrs398124534
gwascentralrs398124534
openSNPrs398124534
23andMers398124534
SNPshotrs398124534
SNPdbers398124534
MSV3drs398124534
GWAS Ctlgrs398124534
Max Magnitude5
ClinVar
Risk rs398124534(-;-)
Alt rs398124534(-;-)
Reference Rs398124534(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.17129590delT
CLNSRC HGMD
CLNACC RCV000082634.5, RCV000239648.1, RCV000492350.1,