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rs180177143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;TTGT) 3 increased risk of breast cancer
(TTGT;TTGT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23637886
GenePALB2
is asnp
is mentioned by
dbSNPrs180177143
dbSNP (classic)rs180177143
ClinGenrs180177143
ebirs180177143
HLIrs180177143
Exacrs180177143
Gnomadrs180177143
Varsomers180177143
LitVarrs180177143
Maprs180177143
PheGenIrs180177143
Biobankrs180177143
1000 genomesrs180177143
hgdprs180177143
ensemblrs180177143
geneviewrs180177143
scholarrs180177143
googlers180177143
pharmgkbrs180177143
gwascentralrs180177143
openSNPrs180177143
23andMers180177143
SNPshotrs180177143
SNPdbers180177143
MSV3drs180177143
GWAS Ctlgrs180177143
Max Magnitude7
ClinVar
Risk Rs180177143(-;-)
Alt Rs180177143(-;-)
Reference Rs180177143(TTGT;TTGT)
Significance Other
Disease Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000016.9:g.23649207_23649210delACAA
CLNSRC OMIM Allelic Variant PALB2 database
CLNACC RCV000114496.4, RCV000114497.3, RCV000116073.7, RCV000212770.3,


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