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rs398124542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AGCCCCTGTGTTGCCAGAGAGTACAGAA) 5 Birt-Hogg-Dube Syndrome
Make rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position17219126
GeneFLCN
is asnp
is mentioned by
dbSNPrs398124542
dbSNP (classic)rs398124542
ClinGenrs398124542
ebirs398124542
HLIrs398124542
Exacrs398124542
Gnomadrs398124542
Varsomers398124542
LitVarrs398124542
Maprs398124542
PheGenIrs398124542
Biobankrs398124542
1000 genomesrs398124542
hgdprs398124542
ensemblrs398124542
geneviewrs398124542
scholarrs398124542
googlers398124542
pharmgkbrs398124542
gwascentralrs398124542
openSNPrs398124542
23andMers398124542
SNPshotrs398124542
SNPdbers398124542
MSV3drs398124542
GWAS Ctlgrs398124542
Max Magnitude5
ClinVar
Risk rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA)
Alt rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA)
Reference Rs398124542(-;-)
Significance Pathogenic
Disease not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome
Variation info
Gene FLCN
CLNDBN not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.17122441_17122468dup28
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000082645.3, RCV000239656.3, RCV000492117.1,