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rs80338757

From SNPedia

Merged intors121913224
Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGA;AAAGA) 0 common in clinvar
Make rs80338757(-;-)
Make rs80338757(-;AAAGA)
ReferenceGRCh38 38.1/141
Chromosome5
Position112839521
GeneAPC
is asnp
is mentioned by
dbSNPrs80338757
ebirs80338757
HLIrs80338757
Exacrs80338757
Varsomers80338757
Maprs80338757
PheGenIrs80338757
hapmaprs80338757
1000 genomesrs80338757
hgdprs80338757
ensemblrs80338757
gopubmedrs80338757
geneviewrs80338757
scholarrs80338757
googlers80338757
pharmgkbrs80338757
gwascentralrs80338757
openSNPrs80338757
23andMers80338757
23andMe allrs80338757
SNP Nexus

SNPshotrs80338757
SNPdbers80338757
MSV3drs80338757
GWAS Ctlgrs80338757
StatusMerged into rs121913224
Max Magnitude0
OMIM611731
Desc
Variant0023
Relatedalso
ClinVar
Risk rs80338757(;)
Alt rs80338757(;)
Reference rs80338757(AAAGA;AAAGA)
Significance Pathogenic
Disease Adenomatous polyposis coli Gardner syndrome
Variation info
Gene APC
CLNDBN Adenomatous polyposis coli Gardner syndrome
Reversed 0
HGVS NC_000005.9:g.112175218_112175222delAAAGA
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000021006.1, SCV000021006.1, SCV000021007.1, SCV000021007.1, SCV000040393.1, SCV000040393.1,


[PMID 8162051] Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.


[PMID 8281160] Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP).


[PMID 8929955OA-icon.png] Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.


[PMID 9890479] Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli.