rs8053188

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	0	Considered benign in ClinVar
(T;T)	0	Considered benign in ClinVar

Reference

GRCh38 38.1/141

Chromosome

16

Position

23641204

Gene	DCTN5, PALB2

is a	snp
is	mentioned by
dbSNP	rs8053188
dbSNP (classic)	rs8053188
ClinGen	rs8053188
ebi	rs8053188
HLI	rs8053188
Exac	rs8053188
Gnomad	rs8053188
Varsome	rs8053188
LitVar	rs8053188
Map	rs8053188
PheGenI	rs8053188
Biobank	rs8053188
1000 genomes	rs8053188
hgdp	rs8053188
ensembl	rs8053188
geneview	rs8053188
scholar	rs8053188
google	rs8053188
pharmgkb	rs8053188
gwascentral	rs8053188
openSNP	rs8053188
23andMe	rs8053188
SNPshot	rs8053188
SNPdbe	rs8053188
MSV3d	rs8053188
GWAS Ctlg	rs8053188

GMAF

0.04316

Max Magnitude

0

?

(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 not specified Fanconi anemia Hereditary cancer-predisposing syndrome
Variation	info
Gene	PALB2 DCTN5
CLNDBN	Familial cancer of breast not specified Fanconi anemia Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000016.9:g.23652525C>T
CLNSRC	PALB2 database
CLNACC	RCV000114446.1, RCV000248074.1, RCV000322920.1, RCV000379880.1,

[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.