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rs730881869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;TT) 3 2-4 fold higher risk for breast cancer, depending on family history
(TT;TT) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position23626256
GenePALB2
is asnp
is mentioned by
dbSNPrs730881869
ebirs730881869
HLIrs730881869
Exacrs730881869
Varsomers730881869
Maprs730881869
PheGenIrs730881869
hapmaprs730881869
1000 genomesrs730881869
hgdprs730881869
ensemblrs730881869
gopubmedrs730881869
geneviewrs730881869
scholarrs730881869
googlers730881869
pharmgkbrs730881869
gwascentralrs730881869
openSNPrs730881869
23andMers730881869
23andMe allrs730881869
SNP Nexus

SNPshotrs730881869
SNPdbers730881869
MSV3drs730881869
GWAS Ctlgrs730881869
Max Magnitude7
ClinVar
Risk rs730881869(;)
Alt rs730881869(;)
Reference rs730881869(TT;TT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Variation info
Gene PALB2
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Reversed 1
HGVS NC_000016.9:g.23637577_23637578delAA
CLNSRC
CLNACC RCV000160810.1, RCV000216355.1, RCV000232116.1,