Have questions? Visit https://www.reddit.com/r/SNPedia

rs180177111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 PALB2-related cancer risk
(T;T) 7 Fanconi anemia, complementation group N
ReferenceGRCh38 38.1/141
Chromosome16
Position23629831
GenePALB2
is asnp
is mentioned by
dbSNPrs180177111
dbSNP (classic)rs180177111
ClinGenrs180177111
ebirs180177111
HLIrs180177111
Exacrs180177111
Gnomadrs180177111
Varsomers180177111
LitVarrs180177111
Maprs180177111
PheGenIrs180177111
Biobankrs180177111
1000 genomesrs180177111
hgdprs180177111
ensemblrs180177111
geneviewrs180177111
scholarrs180177111
googlers180177111
pharmgkbrs180177111
gwascentralrs180177111
openSNPrs180177111
23andMers180177111
SNPshotrs180177111
SNPdbers180177111
MSV3drs180177111
GWAS Ctlgrs180177111
Max Magnitude7
ClinVar
Risk Rs180177111(T;T)
Alt Rs180177111(T;T)
Reference Rs180177111(C;C)
Significance Other
Disease Familial cancer of breast Breast cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000016.9:g.23641152G>A
CLNSRC OMIM Allelic Variant PALB2 database
CLNACC RCV000114521.6, RCV000144702.3, RCV000164897.2, RCV000413982.1,


[PMID 18053174OA-icon.png] Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.


[PMID 19863560] The contribution of founder mutations to early-onset breast cancer in French-Canadian women.