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rs750146811

From SNPedia

Orientationplus
Geno Mag Summary
(CCGA;CCGA) 0 common in clinvar
Make rs750146811(-;-)
Make rs750146811(-;CCGA)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position17227900
GeneFLCN
is asnp
is mentioned by
dbSNPrs750146811
ebirs750146811
HLIrs750146811
Exacrs750146811
Varsomers750146811
Maprs750146811
PheGenIrs750146811
hapmaprs750146811
1000 genomesrs750146811
hgdprs750146811
ensemblrs750146811
gopubmedrs750146811
geneviewrs750146811
scholarrs750146811
googlers750146811
pharmgkbrs750146811
gwascentralrs750146811
openSNPrs750146811
23andMers750146811
23andMe allrs750146811
SNP Nexus

SNPshotrs750146811
SNPdbers750146811
MSV3drs750146811
GWAS Ctlgrs750146811
Max Magnitude0
ClinVar
Risk rs750146811(;)
Alt rs750146811(;)
Reference rs750146811(CCGA;CCGA)
Significance Pathogenic
Disease Pneumothorax Tumor susceptibility linked to germline BAP1 mutations Multiple fibrofolliculomas
Variation info
Gene FLCN
CLNDBN Pneumothorax, primary spontaneous Tumor susceptibility linked to germline BAP1 mutations Multiple fibrofolliculomas
Reversed 0
HGVS NC_000017.10:g.17131214_17131217delCCGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003538.2, RCV000222354.1, RCV000239626.1,