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rs180177110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 increased risk of breast cancer
Make rs180177110(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position23629897
GenePALB2
is asnp
is mentioned by
dbSNPrs180177110
ebirs180177110
HLIrs180177110
Exacrs180177110
Varsomers180177110
Maprs180177110
PheGenIrs180177110
hapmaprs180177110
1000 genomesrs180177110
hgdprs180177110
ensemblrs180177110
gopubmedrs180177110
geneviewrs180177110
scholarrs180177110
googlers180177110
pharmgkbrs180177110
gwascentralrs180177110
openSNPrs180177110
23andMers180177110
23andMe allrs180177110
SNP Nexus

SNPshotrs180177110
SNPdbers180177110
MSV3drs180177110
GWAS Ctlgrs180177110
Max Magnitude3
ClinVar
Risk rs180177110(T;T)
Alt rs180177110(T;T)
Reference rs180177110(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PALB2
CLNDBN Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000016.9:g.23641218G>A; NC_000016.9:g.23641218G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000131502.2, RCV000236519.1, RCV000221875.1,


[PMID 19763884] A PALB2 germline mutation associated with hereditary breast cancer in Italy.