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rs515726123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;CT) 3 2-4 fold higher risk for breast cancer, depending on family history
(-;TC) 5 PALB2-related cancer risk
(CT;CT) 0 common/normal
(TC;TC) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23636037
GenePALB2
is asnp
is mentioned by
dbSNPrs515726123
dbSNP (classic)rs515726123
ClinGenrs515726123
ebirs515726123
HLIrs515726123
Exacrs515726123
Gnomadrs515726123
Varsomers515726123
LitVarrs515726123
Maprs515726123
PheGenIrs515726123
Biobankrs515726123
1000 genomesrs515726123
hgdprs515726123
ensemblrs515726123
geneviewrs515726123
scholarrs515726123
googlers515726123
pharmgkbrs515726123
gwascentralrs515726123
openSNPrs515726123
23andMers515726123
SNPshotrs515726123
SNPdbers515726123
MSV3drs515726123
GWAS Ctlgrs515726123
Merged fromRs515726124
Max Magnitude7

[PMID 25099575OA-icon.png] Breast-Cancer Risk in Families with Mutations in PALB2

see also ClinVar (where clinical significance = pathogenic)

ClinVar
Risk Rs515726123(-;-) Rs515726123(TC;TC)
Alt Rs515726123(-;-) Rs515726123(TC;TC)
Reference Rs515726123(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders
Reversed 0
HGVS NC_000016.9:g.23647357_23647358delTC
CLNSRC PALB2 database
CLNACC RCV000114645.6, RCV000114646.1, RCV000130658.7, RCV000212776.2, RCV000363454.1,