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rs753009073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 5 Birt-Hogg-Dube Syndrome
(D;D) 0 common genotype
Make rs753009073(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position17213815
GeneFLCN
is asnp
is mentioned by
dbSNPrs753009073
dbSNP (classic)rs753009073
ClinGenrs753009073
ebirs753009073
HLIrs753009073
Exacrs753009073
Gnomadrs753009073
Varsomers753009073
LitVarrs753009073
Maprs753009073
PheGenIrs753009073
Biobankrs753009073
1000 genomesrs753009073
hgdprs753009073
ensemblrs753009073
geneviewrs753009073
scholarrs753009073
googlers753009073
pharmgkbrs753009073
gwascentralrs753009073
openSNPrs753009073
23andMers753009073
SNPshotrs753009073
SNPdbers753009073
MSV3drs753009073
GWAS Ctlgrs753009073
Max Magnitude5
ClinVar
Risk rs753009073(T;T)
Alt rs753009073(T;T)
Reference Rs753009073(-;-)
Significance Pathogenic
Disease Multiple fibrofolliculomas
Variation info
Gene FLCN LOC101928660
CLNDBN Multiple fibrofolliculomas
Reversed 0
HGVS NC_000017.10:g.17117129_17117130insT
CLNSRC
CLNACC RCV000239620.1,