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rs180177142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;G) 3 increased risk of breast cancer
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23638106
GenePALB2
is asnp
is mentioned by
dbSNPrs180177142
dbSNP (classic)rs180177142
ClinGenrs180177142
ebirs180177142
HLIrs180177142
Exacrs180177142
Gnomadrs180177142
Varsomers180177142
LitVarrs180177142
Maprs180177142
PheGenIrs180177142
Biobankrs180177142
1000 genomesrs180177142
hgdprs180177142
ensemblrs180177142
geneviewrs180177142
scholarrs180177142
googlers180177142
pharmgkbrs180177142
gwascentralrs180177142
openSNPrs180177142
23andMers180177142
SNPshotrs180177142
SNPdbers180177142
MSV3drs180177142
GWAS Ctlgrs180177142
Max Magnitude7
ClinVar
Risk Rs180177142(-;-)
Alt Rs180177142(-;-)
Reference Rs180177142(G;G)
Significance Pathogenic
Disease Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000016.9:g.23649427delC
CLNSRC PALB2 database
CLNACC RCV000114655.1, RCV000114656.1, RCV000164203.1,


[PMID 21184274] PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.