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rs180177133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;A) 3 increased risk of breast cancer
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23614089
GenePALB2
is asnp
is mentioned by
dbSNPrs180177133
dbSNP (classic)rs180177133
ClinGenrs180177133
ebirs180177133
HLIrs180177133
Exacrs180177133
Gnomadrs180177133
Varsomers180177133
LitVarrs180177133
Maprs180177133
PheGenIrs180177133
Biobankrs180177133
1000 genomesrs180177133
hgdprs180177133
ensemblrs180177133
geneviewrs180177133
scholarrs180177133
googlers180177133
pharmgkbrs180177133
gwascentralrs180177133
openSNPrs180177133
23andMers180177133
SNPshotrs180177133
SNPdbers180177133
MSV3drs180177133
GWAS Ctlgrs180177133
Max Magnitude7
ClinVar
Risk Rs180177133(-;-)
Alt Rs180177133(-;-)
Reference Rs180177133(A;A)
Significance Other
Disease Breast cancer Familial cancer of breast Fanconi anemia Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PALB2
CLNDBN Breast cancer, susceptibility to 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.23625410delT
CLNSRC OMIM Allelic Variant PALB2 database
CLNACC RCV000001309.2, RCV000114595.4, RCV000114596.2, RCV000114597.3, RCV000131150.4, RCV000235691.2,


[PMID 17200668OA-icon.png] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.


[PMID 18302019] Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.