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rs180177113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;CT) 3 2-4 fold higher risk for breast cancer, depending on family history
(CT;CT) 7 Fanconi anemia, complementation group N


Make rs180177113(-;-)
ReferenceGRCh38 38.1/141
Chromosome16
Position23629760
GenePALB2
is asnp
is mentioned by
dbSNPrs180177113
ebirs180177113
HLIrs180177113
Exacrs180177113
Varsomers180177113
Maprs180177113
PheGenIrs180177113
hapmaprs180177113
1000 genomesrs180177113
hgdprs180177113
ensemblrs180177113
gopubmedrs180177113
geneviewrs180177113
scholarrs180177113
googlers180177113
pharmgkbrs180177113
gwascentralrs180177113
openSNPrs180177113
23andMers180177113
23andMe allrs180177113
SNP Nexus

SNPshotrs180177113
SNPdbers180177113
MSV3drs180177113
GWAS Ctlgrs180177113
Max Magnitude7
ClinVar
Risk rs180177113(CT;CT)
Alt rs180177113(CT;CT)
Reference rs180177113(;)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N
Reversed 1
HGVS NC_000016.9:g.23641081_23641082insAG
CLNSRC Fanconi anemia database (FANCN) PALB2 database
CLNACC RCV000114526.1,


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