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rs587781952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Birt-Hogg-Dube Syndrome
Make rs587781952(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position17219138
GeneFLCN
is asnp
is mentioned by
dbSNPrs587781952
dbSNP (classic)rs587781952
ClinGenrs587781952
ebirs587781952
HLIrs587781952
Exacrs587781952
Gnomadrs587781952
Varsomers587781952
LitVarrs587781952
Maprs587781952
PheGenIrs587781952
Biobankrs587781952
1000 genomesrs587781952
hgdprs587781952
ensemblrs587781952
geneviewrs587781952
scholarrs587781952
googlers587781952
pharmgkbrs587781952
gwascentralrs587781952
openSNPrs587781952
23andMers587781952
SNPshotrs587781952
SNPdbers587781952
MSV3drs587781952
GWAS Ctlgrs587781952
Max Magnitude5
ClinVar
Risk rs587781952(T;T)
Alt rs587781952(T;T)
Reference Rs587781952(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene FLCN
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.17122452C>A
CLNSRC
CLNACC RCV000130322.2,