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rs398124538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs398124538(GC;TA)
Make rs398124538(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome17
Position17223929
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124538
dbSNP (classic)rs398124538
ClinGenrs398124538
ebirs398124538
HLIrs398124538
Exacrs398124538
Gnomadrs398124538
Varsomers398124538
LitVarrs398124538
Maprs398124538
PheGenIrs398124538
Biobankrs398124538
1000 genomesrs398124538
hgdprs398124538
ensemblrs398124538
geneviewrs398124538
scholarrs398124538
googlers398124538
pharmgkbrs398124538
gwascentralrs398124538
openSNPrs398124538
23andMers398124538
SNPshotrs398124538
SNPdbers398124538
MSV3drs398124538
GWAS Ctlgrs398124538
Max Magnitude0
ClinVar
Risk rs398124538(TA;TA)
Alt rs398124538(TA;TA)
Reference Rs398124538(GC;GC)
Significance Pathogenic
Disease not provided Multiple fibrofolliculomas
Variation info
Gene FLCN
CLNDBN not provided Multiple fibrofolliculomas
Reversed 1
HGVS NC_000017.10:g.17127243_17127244delGCinsTA
CLNSRC HGMD
CLNACC RCV000082640.4, RCV000133394.3,