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rs180177092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;CT) 5 PALB2-related cancer risk
(CT;CT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23635788
GenePALB2
is asnp
is mentioned by
dbSNPrs180177092
dbSNP (classic)rs180177092
ClinGenrs180177092
ebirs180177092
HLIrs180177092
Exacrs180177092
Gnomadrs180177092
Varsomers180177092
LitVarrs180177092
Maprs180177092
PheGenIrs180177092
Biobankrs180177092
1000 genomesrs180177092
hgdprs180177092
ensemblrs180177092
geneviewrs180177092
scholarrs180177092
googlers180177092
pharmgkbrs180177092
gwascentralrs180177092
openSNPrs180177092
23andMers180177092
SNPshotrs180177092
SNPdbers180177092
MSV3drs180177092
GWAS Ctlgrs180177092
Max Magnitude7
ClinVar
Risk Rs180177092(-;-)
Alt Rs180177092(-;-)
Reference Rs180177092(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Fanconi anemia Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Fanconi anemia, complementation group N Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000016.9:g.23647109_23647110delAG
CLNSRC PALB2 database
CLNACC RCV000114658.4, RCV000114659.2, RCV000114660.1, RCV000116112.7, RCV000212779.1,


[PMID 21285249OA-icon.png] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.