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rs180177085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;T) 3 2-4 fold higher risk for breast cancer, depending on family history
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23636151
GenePALB2
is asnp
is mentioned by
dbSNPrs180177085
ebirs180177085
HLIrs180177085
Exacrs180177085
Varsomers180177085
Maprs180177085
PheGenIrs180177085
hapmaprs180177085
1000 genomesrs180177085
hgdprs180177085
ensemblrs180177085
gopubmedrs180177085
geneviewrs180177085
scholarrs180177085
googlers180177085
pharmgkbrs180177085
gwascentralrs180177085
openSNPrs180177085
23andMers180177085
23andMe allrs180177085
SNP Nexus

SNPshotrs180177085
SNPdbers180177085
MSV3drs180177085
GWAS Ctlgrs180177085
Max Magnitude7
ClinVar
Risk rs180177085(;)
Alt rs180177085(;)
Reference rs180177085(T;T)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N
Reversed 1
HGVS NC_000016.9:g.23647472delA
CLNSRC Fanconi anemia database (FANCN) PALB2 database
CLNACC RCV000114636.1,


[PMID 17200671] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.