rs137854567

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	2	Familial adenomatous polyposis or benign? Unclear.

Make rs137854567(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

112819272

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs137854567
dbSNP (classic)	rs137854567
ClinGen	rs137854567
ebi	rs137854567
HLI	rs137854567
Exac	rs137854567
Gnomad	rs137854567
Varsome	rs137854567
LitVar	rs137854567
Map	rs137854567
PheGenI	rs137854567
Biobank	rs137854567
1000 genomes	rs137854567
hgdp	rs137854567
ensembl	rs137854567
geneview	rs137854567
scholar	rs137854567
google	rs137854567
pharmgkb	rs137854567
gwascentral	rs137854567
openSNP	rs137854567
23andMe	rs137854567
SNPshot	rs137854567
SNPdbe	rs137854567
MSV3d	rs137854567
GWAS Ctlg	rs137854567

GMAF

0.0009183

Max Magnitude

2

OMIM	611731
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137854567(A;A) rs137854567(T;T)
Alt	rs137854567(A;A) rs137854567(T;T)
Reference	Rs137854567(C;C)
Significance	Other
Disease	Hereditary cancer-predisposing syndrome Gardner syndrome not provided not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders
Variation	info
Gene	APC
CLNDBN	Hereditary cancer-predisposing syndrome Gardner syndrome not provided not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders
Reversed	0
HGVS	NC_000005.9:g.112154969C>A; NC_000005.9:g.112154969C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000223120.1, RCV000000833.5, RCV000034380.1, RCV000115067.6, RCV000120052.4, RCV000122757.7, RCV000315386.1,