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rs180177134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;GACGA) 3 2-4 fold higher risk for breast cancer, depending on family history
(GACGA;GACGA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23607916
GenePALB2
is asnp
is mentioned by
dbSNPrs180177134
ebirs180177134
HLIrs180177134
Exacrs180177134
Varsomers180177134
Maprs180177134
PheGenIrs180177134
hapmaprs180177134
1000 genomesrs180177134
hgdprs180177134
ensemblrs180177134
gopubmedrs180177134
geneviewrs180177134
scholarrs180177134
googlers180177134
pharmgkbrs180177134
gwascentralrs180177134
openSNPrs180177134
23andMers180177134
23andMe allrs180177134
SNP Nexus

SNPshotrs180177134
SNPdbers180177134
MSV3drs180177134
GWAS Ctlgrs180177134
Max Magnitude7
ClinVar
Risk rs180177134(;)
Alt rs180177134(;)
Reference rs180177134(GACGA;GACGA)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N
Reversed 1
HGVS NC_000016.9:g.23619237_23619241delTCGTC
CLNSRC
CLNACC


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