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rs118203997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 Fanconi anemia, complementation group N
(A;T) 5 PALB2-related cancer risk
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23634893
GenePALB2
is asnp
is mentioned by
dbSNPrs118203997
dbSNP (classic)rs118203997
ClinGenrs118203997
ebirs118203997
HLIrs118203997
Exacrs118203997
Gnomadrs118203997
Varsomers118203997
LitVarrs118203997
Maprs118203997
PheGenIrs118203997
Biobankrs118203997
1000 genomesrs118203997
hgdprs118203997
ensemblrs118203997
geneviewrs118203997
scholarrs118203997
googlers118203997
pharmgkbrs118203997
gwascentralrs118203997
openSNPrs118203997
23andMers118203997
SNPshotrs118203997
SNPdbers118203997
MSV3drs118203997
GWAS Ctlgrs118203997
Max Magnitude7
OMIM610355
Desc
Variant0001
Relatedalso
OMIM114480
Desc
Variant
Relatedalso
ClinVar
Risk Rs118203997(A;A) rs118203997(C;C)
Alt Rs118203997(A;A) rs118203997(C;C)
Reference Rs118203997(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Fanconi anemia not provided Familial cancer of breast
Variation info
Gene PALB2
CLNDBN Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group N not provided Familial cancer of breast
Reversed 1
HGVS NC_000016.9:g.23646214A>G; NC_000016.9:g.23646214A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000219143.1, RCV000001302.2, RCV000217204.1, RCV000235772.2, RCV000476387.1,


[PMID 21285249OA-icon.png] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.