Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Birt-Hogg-Dube Syndrome
(G;G) 0 common in clinvar


Make rs398124530(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position17214990
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124530
dbSNP (classic)rs398124530
ClinGenrs398124530
ebirs398124530
HLIrs398124530
Exacrs398124530
Gnomadrs398124530
Varsomers398124530
LitVarrs398124530
Maprs398124530
PheGenIrs398124530
Biobankrs398124530
1000 genomesrs398124530
hgdprs398124530
ensemblrs398124530
geneviewrs398124530
scholarrs398124530
googlers398124530
pharmgkbrs398124530
gwascentralrs398124530
openSNPrs398124530
23andMers398124530
SNPshotrs398124530
SNPdbers398124530
MSV3drs398124530
GWAS Ctlgrs398124530
Max Magnitude5
ClinVar
Risk rs398124530(A;A)
Alt rs398124530(A;A)
Reference Rs398124530(G;G)
Significance Pathogenic
Disease not provided Multiple fibrofolliculomas
Variation info
Gene FLCN LOC101928660
CLNDBN not provided Multiple fibrofolliculomas
Reversed 1
HGVS NC_000017.10:g.17118304C>T
CLNSRC HGMD
CLNACC RCV000082630.4, RCV000239664.1,