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rs8053188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 0 Considered benign in ClinVar
(T;T) 0 Considered benign in ClinVar
ReferenceGRCh38 38.1/141
Chromosome16
Position23641204
GeneDCTN5, PALB2
is asnp
is mentioned by
dbSNPrs8053188
ebirs8053188
HLIrs8053188
Exacrs8053188
Varsomers8053188
Maprs8053188
PheGenIrs8053188
hapmaprs8053188
1000 genomesrs8053188
hgdprs8053188
ensemblrs8053188
gopubmedrs8053188
geneviewrs8053188
scholarrs8053188
googlers8053188
pharmgkbrs8053188
gwascentralrs8053188
openSNPrs8053188
23andMers8053188
23andMe allrs8053188
SNP Nexus

SNPshotrs8053188
SNPdbers8053188
MSV3drs8053188
GWAS Ctlgrs8053188
GMAF0.04316
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19921424] Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population


ClinVar
Risk rs8053188(T;T)
Alt rs8053188(T;T)
Reference rs8053188(C;C)
Significance Non-pathogenic
Disease Familial cancer of breast
Variation info
Gene PALB2 DCTN5
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000016.9:g.23652525C>T
CLNSRC PALB2 database
CLNACC RCV000114446.1,



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


[PMID 18446436] The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.