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rs558699420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Birt-Hogg-Dube Syndrome
(G;G) 0 common in clinvar
Make rs558699420(G;T)
Make rs558699420(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position17222646
GeneFLCN
is asnp
is mentioned by
dbSNPrs558699420
dbSNP (classic)rs558699420
ClinGenrs558699420
ebirs558699420
HLIrs558699420
Exacrs558699420
Gnomadrs558699420
Varsomers558699420
LitVarrs558699420
Maprs558699420
PheGenIrs558699420
Biobankrs558699420
1000 genomesrs558699420
hgdprs558699420
ensemblrs558699420
geneviewrs558699420
scholarrs558699420
googlers558699420
pharmgkbrs558699420
gwascentralrs558699420
openSNPrs558699420
23andMers558699420
SNPshotrs558699420
SNPdbers558699420
MSV3drs558699420
GWAS Ctlgrs558699420
Max Magnitude5
ClinVar
Risk rs558699420(A;A) rs558699420(T;T)
Alt rs558699420(A;A) rs558699420(T;T)
Reference Rs558699420(G;G)
Significance Pathogenic
Disease Multiple fibrofolliculomas
Variation info
Gene FLCN
CLNDBN Multiple fibrofolliculomas
Reversed 0
HGVS NC_000017.10:g.17125960G>A
CLNSRC
CLNACC RCV000239615.1,