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rs180177135

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
Position23607891
GenePALB2
is asnp
is mentioned by
dbSNPrs180177135
ebirs180177135
HLIrs180177135
Exacrs180177135
Varsomers180177135
Maprs180177135
PheGenIrs180177135
hapmaprs180177135
1000 genomesrs180177135
hgdprs180177135
ensemblrs180177135
gopubmedrs180177135
geneviewrs180177135
scholarrs180177135
googlers180177135
pharmgkbrs180177135
gwascentralrs180177135
openSNPrs180177135
23andMers180177135
23andMe allrs180177135
SNP Nexus

SNPshotrs180177135
SNPdbers180177135
MSV3drs180177135
GWAS Ctlgrs180177135
Max Magnitude7
ClinVar
Risk rs180177135(;)
Alt rs180177135(;)
Reference rs180177135(A;A)
Significance Pathogenic
Disease Fanconi anemia Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed 1
HGVS NC_000016.9:g.23619212delT
CLNSRC Fanconi anemia database (FANCN) PALB2 database
CLNACC RCV000114618.1, RCV000132282.3, RCV000168157.4, RCV000235326.1,


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