rs863225322

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GA)	6.5	Familial Adenomatous Polyposis
(-;GAGA)	6.5	Familial Adenomatous Polyposis
(AGAG;AGAG)	0	common in clinvar
(GA;GA)	0	common/normal

Make rs863225322(-;-)

Make rs863225322(GAGA;GAGA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

112837566

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs863225322
dbSNP (classic)	rs863225322
ClinGen	rs863225322
ebi	rs863225322
HLI	rs863225322
Exac	rs863225322
Gnomad	rs863225322
Varsome	rs863225322
LitVar	rs863225322
Map	rs863225322
PheGenI	rs863225322
Biobank	rs863225322
1000 genomes	rs863225322
hgdp	rs863225322
ensembl	rs863225322
geneview	rs863225322
scholar	rs863225322
google	rs863225322
pharmgkb	rs863225322
gwascentral	rs863225322
openSNP	rs863225322
23andMe	rs863225322
SNPshot	rs863225322
SNPdbe	rs863225322
MSV3d	rs863225322
GWAS Ctlg	rs863225322

Max Magnitude

6.5

aka c.1970_1971delGA and c.1970_1971delGAGA; both are considered pathogenic in ClinVar for familial adenomatous polyposis

ClinVar
Risk	rs863225322(-;-)
Alt	rs863225322(-;-)
Reference	Rs863225322(AGAG;AGAG)
Significance	Pathogenic
Disease	not provided Familial adenomatous polyposis 1
Variation	info
Gene	APC
CLNDBN	not provided Familial adenomatous polyposis 1
Reversed	0
HGVS	NC_000005.9:g.112173263_112173266delGAGA
CLNSRC
CLNACC	RCV000202030.2, RCV000233179.1,