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rs180177126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;AA) 5 PALB2-related cancer risk
(AA;AA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23623044
GenePALB2
is asnp
is mentioned by
dbSNPrs180177126
dbSNP (classic)rs180177126
ClinGenrs180177126
ebirs180177126
HLIrs180177126
Exacrs180177126
Gnomadrs180177126
Varsomers180177126
LitVarrs180177126
Maprs180177126
PheGenIrs180177126
Biobankrs180177126
1000 genomesrs180177126
hgdprs180177126
ensemblrs180177126
geneviewrs180177126
scholarrs180177126
googlers180177126
pharmgkbrs180177126
gwascentralrs180177126
openSNPrs180177126
23andMers180177126
SNPshotrs180177126
SNPdbers180177126
MSV3drs180177126
GWAS Ctlgrs180177126
Merged fromRs587776421
Max Magnitude7
ClinVar
Risk Rs180177126(-;-)
Alt Rs180177126(-;-)
Reference Rs180177126(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000016.9:g.23634365_23634366delTT
CLNSRC PALB2 database
CLNACC RCV000114575.4, RCV000132234.6, RCV000133483.2,


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