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rs180177136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 2-4 fold higher risk for breast cancer, depending on family history
(G;G) 7 Fanconi anemia, complementation group N
ReferenceGRCh38 38.1/141
Chromosome16
Position23607860
GenePALB2
is asnp
is mentioned by
dbSNPrs180177136
ebirs180177136
HLIrs180177136
Exacrs180177136
Varsomers180177136
Maprs180177136
PheGenIrs180177136
hapmaprs180177136
1000 genomesrs180177136
hgdprs180177136
ensemblrs180177136
gopubmedrs180177136
geneviewrs180177136
scholarrs180177136
googlers180177136
pharmgkbrs180177136
gwascentralrs180177136
openSNPrs180177136
23andMers180177136
23andMe allrs180177136
SNP Nexus

SNPshotrs180177136
SNPdbers180177136
MSV3drs180177136
GWAS Ctlgrs180177136
Max Magnitude7
ClinVar
Risk rs180177136(G;G)
Alt rs180177136(G;G)
Reference rs180177136(A;A)
Significance Pathogenic
Disease Familial cancer of breast Fanconi anemia Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Fanconi anemia, complementation group N Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000016.9:g.23619181T>C
CLNSRC Fanconi anemia database (FANCN) PALB2 database
CLNACC RCV000114621.1, RCV000114622.1, RCV000213830.1,


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