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rs180177091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 increased risk of breast cancer
(T;T) 7 Fanconi anemia, complementation group N
ReferenceGRCh38 38.1/141
Chromosome16
Position23635795
GenePALB2
is asnp
is mentioned by
dbSNPrs180177091
ebirs180177091
HLIrs180177091
Exacrs180177091
Varsomers180177091
Maprs180177091
PheGenIrs180177091
hapmaprs180177091
1000 genomesrs180177091
hgdprs180177091
ensemblrs180177091
gopubmedrs180177091
geneviewrs180177091
scholarrs180177091
googlers180177091
pharmgkbrs180177091
gwascentralrs180177091
openSNPrs180177091
23andMers180177091
23andMe allrs180177091
SNP Nexus

SNPshotrs180177091
SNPdbers180177091
MSV3drs180177091
GWAS Ctlgrs180177091
Max Magnitude7
ClinVar
Risk rs180177091(T;T)
Alt rs180177091(T;T)
Reference rs180177091(C;C)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000016.9:g.23647116G>A
CLNSRC PALB2 database
CLNACC RCV000114657.1, RCV000210097.1, RCV000217801.1,


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