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rs180177100

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
Position23635306
GenePALB2
is asnp
is mentioned by
dbSNPrs180177100
ebirs180177100
HLIrs180177100
Exacrs180177100
Varsomers180177100
Maprs180177100
PheGenIrs180177100
hapmaprs180177100
1000 genomesrs180177100
hgdprs180177100
ensemblrs180177100
gopubmedrs180177100
geneviewrs180177100
scholarrs180177100
googlers180177100
pharmgkbrs180177100
gwascentralrs180177100
openSNPrs180177100
23andMers180177100
23andMe allrs180177100
SNP Nexus

SNPshotrs180177100
SNPdbers180177100
MSV3drs180177100
GWAS Ctlgrs180177100
Max Magnitude7
ClinVar
Risk rs180177100(T;T)
Alt rs180177100(T;T)
Reference rs180177100(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene PALB2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000016.9:g.23646627G>A
CLNSRC Ambry Genetics ClinVar GeneDx
CLNACC RCV000116064.4, RCV000123331.4,


[PMID 21165770OA-icon.png] PALB2 mutations in German and Russian patients with bilateral breast cancer.


[PMID 21285249OA-icon.png] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.