rs387906234

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AG)	6.5	Familial Adenomatous Polyposis
(AG;AG)	0	common in clinvar

Make rs387906234(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

112839987

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs387906234
dbSNP (classic)	rs387906234
ClinGen	rs387906234
ebi	rs387906234
HLI	rs387906234
Exac	rs387906234
Gnomad	rs387906234
Varsome	rs387906234
LitVar	rs387906234
Map	rs387906234
PheGenI	rs387906234
Biobank	rs387906234
1000 genomes	rs387906234
hgdp	rs387906234
ensembl	rs387906234
geneview	rs387906234
scholar	rs387906234
google	rs387906234
pharmgkb	rs387906234
gwascentral	rs387906234
openSNP	rs387906234
23andMe	rs387906234
SNPshot	rs387906234
SNPdbe	rs387906234
MSV3d	rs387906234
GWAS Ctlg	rs387906234

Max Magnitude

6.5

aka c.4385_4386delAG and c.4385_4386delAGAG; both are considered pathogenic in ClinVar for

ClinVar
Risk	rs387906234(-;-) rs387906234(GA;GA)
Alt	rs387906234(-;-) rs387906234(GA;GA)
Reference	Rs387906234(AG;AG)
Significance	Pathogenic
Disease	Gardner syndrome Periampullary adenoma not provided Colorectal cancer
Variation	info
Gene	APC
CLNDBN	Gardner syndrome Periampullary adenoma not provided Colorectal cancer, susceptibility to familial adenomatous polyposis
Reversed	0
HGVS	NC_000005.9:g.112175684_112175685delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000849.2, RCV000000850.4, RCV000202100.3, RCV000210178.1,