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rs180177097

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
Position23635519
GenePALB2
is asnp
is mentioned by
dbSNPrs180177097
ebirs180177097
HLIrs180177097
Exacrs180177097
Varsomers180177097
Maprs180177097
PheGenIrs180177097
hapmaprs180177097
1000 genomesrs180177097
hgdprs180177097
ensemblrs180177097
gopubmedrs180177097
geneviewrs180177097
scholarrs180177097
googlers180177097
pharmgkbrs180177097
gwascentralrs180177097
openSNPrs180177097
23andMers180177097
23andMe allrs180177097
SNP Nexus

SNPshotrs180177097
SNPdbers180177097
MSV3drs180177097
GWAS Ctlgrs180177097
Max Magnitude7
ClinVar
Risk rs180177097(T;T)
Alt rs180177097(T;T)
Reference rs180177097(C;C)
Significance Other
Disease Familial cancer of breast Pancreatic cancer 3 Breast cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Pancreatic cancer 3 Breast cancer, susceptibility to Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000016.9:g.23646840G>A
CLNSRC OMIM Allelic Variant PALB2 database
CLNACC RCV000114452.1, RCV000114453.1, RCV000144519.2, RCV000215551.1,


[PMID 21184274] PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.