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rs180177116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;A) 3 increased risk of breast cancer
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23629269
GenePALB2
is asnp
is mentioned by
dbSNPrs180177116
ebirs180177116
HLIrs180177116
Exacrs180177116
Varsomers180177116
Maprs180177116
PheGenIrs180177116
hapmaprs180177116
1000 genomesrs180177116
hgdprs180177116
ensemblrs180177116
gopubmedrs180177116
geneviewrs180177116
scholarrs180177116
googlers180177116
pharmgkbrs180177116
gwascentralrs180177116
openSNPrs180177116
23andMers180177116
23andMe allrs180177116
SNP Nexus

SNPshotrs180177116
SNPdbers180177116
MSV3drs180177116
GWAS Ctlgrs180177116
Max Magnitude7
ClinVar
Risk rs180177116(;)
Alt rs180177116(;)
Reference rs180177116(A;A)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N
Reversed 1
HGVS NC_000016.9:g.23640590delT
CLNSRC Fanconi anemia database (FANCN) PALB2 database
CLNACC RCV000114535.1,


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