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rs121913224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
(AAAGA;AAAGA) 0 common in clinvar
Make rs121913224(-;-)
Make rs121913224(-;AAAGA)
ReferenceGRCh38 38.1/141
Chromosome5
Position112839521
GeneAPC
is asnp
is mentioned by
dbSNPrs121913224
ebirs121913224
HLIrs121913224
Exacrs121913224
Varsomers121913224
Maprs121913224
PheGenIrs121913224
hapmaprs121913224
1000 genomesrs121913224
hgdprs121913224
ensemblrs121913224
gopubmedrs121913224
geneviewrs121913224
scholarrs121913224
googlers121913224
pharmgkbrs121913224
gwascentralrs121913224
openSNPrs121913224
23andMers121913224
23andMe allrs121913224
SNP Nexus

SNPshotrs121913224
SNPdbers121913224
MSV3drs121913224
GWAS Ctlgrs121913224
Merged fromRs80338757
Max Magnitude0
ClinVar
Risk rs121913224(;)
Alt rs121913224(;)
Reference rs121913224(AAAAG;AAAAG)
Significance Pathogenic
Disease Familial adenomatous polyposis 1 Gardner syndrome Adenomatous polyposis coli with congenital cholesteatoma Hereditary cancer-predisposing syndrome not provided
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 Gardner syndrome Adenomatous polyposis coli with congenital cholesteatoma Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000005.9:g.112175218_112175222delAAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000856.4, RCV000000857.2, RCV000000858.2, RCV000128941.2, RCV000202014.1,


[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.