rs80338757

rs121913224

plus

Geno	Mag	Summary
(AAAGA;AAAGA)	0	common in clinvar

Make rs80338757(-;-)

Make rs80338757(-;AAAGA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

112839521

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs80338757
dbSNP (classic)	rs80338757
ClinGen	rs80338757
ebi	rs80338757
HLI	rs80338757
Exac	rs80338757
Gnomad	rs80338757
Varsome	rs80338757
LitVar	rs80338757
Map	rs80338757
PheGenI	rs80338757
Biobank	rs80338757
1000 genomes	rs80338757
hgdp	rs80338757
ensembl	rs80338757
geneview	rs80338757
scholar	rs80338757
google	rs80338757
pharmgkb	rs80338757
gwascentral	rs80338757
openSNP	rs80338757
23andMe	rs80338757
SNPshot	rs80338757
SNPdbe	rs80338757
MSV3d	rs80338757
GWAS Ctlg	rs80338757

Status

Merged into rs121913224

Max Magnitude

0

OMIM	611731
Desc
Variant	0023
Related	also

ClinVar
Risk
Alt
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 8929955 ] 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.