Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Birt-Hogg-Dube Syndrome
Make rs398124536(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position17226226
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124536
dbSNP (classic)rs398124536
ClinGenrs398124536
ebirs398124536
HLIrs398124536
Exacrs398124536
Gnomadrs398124536
Varsomers398124536
LitVarrs398124536
Maprs398124536
PheGenIrs398124536
Biobankrs398124536
1000 genomesrs398124536
hgdprs398124536
ensemblrs398124536
geneviewrs398124536
scholarrs398124536
googlers398124536
pharmgkbrs398124536
gwascentralrs398124536
openSNPrs398124536
23andMers398124536
SNPshotrs398124536
SNPdbers398124536
MSV3drs398124536
GWAS Ctlgrs398124536
Max Magnitude5
ClinVar
Risk rs398124536(A;A) rs398124536(T;T)
Alt rs398124536(A;A) rs398124536(T;T)
Reference Rs398124536(C;C)
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.17129540G>A
CLNSRC ClinVar Emory University
CLNACC RCV000082636.4, RCV000239717.1, RCV000492649.1,