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rs398124541

From SNPedia

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


Make rs398124541(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position17219188
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124541
dbSNP (classic)rs398124541
ClinGenrs398124541
ebirs398124541
HLIrs398124541
Exacrs398124541
Gnomadrs398124541
Varsomers398124541
LitVarrs398124541
Maprs398124541
PheGenIrs398124541
Biobankrs398124541
1000 genomesrs398124541
hgdprs398124541
ensemblrs398124541
geneviewrs398124541
scholarrs398124541
googlers398124541
pharmgkbrs398124541
gwascentralrs398124541
openSNPrs398124541
23andMers398124541
SNPshotrs398124541
SNPdbers398124541
MSV3drs398124541
GWAS Ctlgrs398124541
Max Magnitude5
ClinVar
Risk rs398124541(-;-)
Alt rs398124541(-;-)
Reference Rs398124541(AAAG;AAAG)
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.17122502_17122505delCTTT
CLNSRC HGMD
CLNACC RCV000082644.4, RCV000239720.1, RCV000492401.1,