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Rs118203997

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Orientationminus
is asnp
is mentioned by
dbSNPrs118203997
PheGenIrs118203997
nextbiors118203997
hapmaprs118203997
1000 genomesrs118203997
hgdprs118203997
ensemblrs118203997
gopubmedrs118203997
geneviewrs118203997
scholarrs118203997
googlers118203997
pharmgkbrs118203997
gwascentralrs118203997
openSNPrs118203997
23andMers118203997
23andMe allrs118203997
SNP Nexus

SNPshotrs118203997
SNPdbers118203997
MSV3drs118203997
GenePALB2
Chromosome16
Orientationminus
Position23634893
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203997(A;A)
Make rs118203997(A;T)
OMIM610355
Desc
Variant0001
Relatedalso
OMIM114480
Desc
Variant
Relatedalso
ClinVar
Risk rs118203997(A;A)
Alt rs118203997(A;A)
Reference rs118203997(T;T)
Significance 5
Disease Fanconi anemia
ClinVar info
Gene PALB2
CLNDBN Fanconi anemia, complementation group N
Reversed 1
CLNHGVS NC_000016.9:g.23646214A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001302.1


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