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rs587782069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Birt-Hogg-Dube Syndrome
Make rs587782069(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position17224041
GeneFLCN
is asnp
is mentioned by
dbSNPrs587782069
dbSNP (classic)rs587782069
ClinGenrs587782069
ebirs587782069
HLIrs587782069
Exacrs587782069
Gnomadrs587782069
Varsomers587782069
LitVarrs587782069
Maprs587782069
PheGenIrs587782069
Biobankrs587782069
1000 genomesrs587782069
hgdprs587782069
ensemblrs587782069
geneviewrs587782069
scholarrs587782069
googlers587782069
pharmgkbrs587782069
gwascentralrs587782069
openSNPrs587782069
23andMers587782069
SNPshotrs587782069
SNPdbers587782069
MSV3drs587782069
GWAS Ctlgrs587782069
Max Magnitude5
ClinVar
Risk rs587782069(T;T)
Alt rs587782069(T;T)
Reference Rs587782069(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 1
HGVS NC_000017.10:g.17127355G>A
CLNSRC
CLNACC RCV000130556.4, RCV000239654.1, RCV000255173.1,