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rs776896550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 5 Birt-Hogg-Dube Syndrome
Make rs776896550(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position17226224
GeneFLCN
is asnp
is mentioned by
dbSNPrs776896550
dbSNP (classic)rs776896550
ClinGenrs776896550
ebirs776896550
HLIrs776896550
Exacrs776896550
Gnomadrs776896550
Varsomers776896550
LitVarrs776896550
Maprs776896550
PheGenIrs776896550
Biobankrs776896550
1000 genomesrs776896550
hgdprs776896550
ensemblrs776896550
geneviewrs776896550
scholarrs776896550
googlers776896550
pharmgkbrs776896550
gwascentralrs776896550
openSNPrs776896550
23andMers776896550
SNPshotrs776896550
SNPdbers776896550
MSV3drs776896550
GWAS Ctlgrs776896550
Max Magnitude5
ClinVar
Risk rs776896550(T;T)
Alt rs776896550(T;T)
Reference Rs776896550(-;-)
Significance Pathogenic
Disease Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome
Variation info
Gene FLCN
CLNDBN Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.17129539dupT
CLNSRC
CLNACC RCV000230001.2, RCV000358389.1, RCV000492339.1,