rs398122515

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6	POLE associated susceptibility to colorectal cancer

Make rs398122515(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

132643404

Gene

POLE

is a	snp
is	mentioned by
dbSNP	rs398122515
dbSNP (classic)	rs398122515
ClinGen	rs398122515
ebi	rs398122515
HLI	rs398122515
Exac	rs398122515
Gnomad	rs398122515
Varsome	rs398122515
LitVar	rs398122515
Map	rs398122515
PheGenI	rs398122515
Biobank	rs398122515
1000 genomes	rs398122515
hgdp	rs398122515
ensembl	rs398122515
geneview	rs398122515
scholar	rs398122515
google	rs398122515
pharmgkb	rs398122515
gwascentral	rs398122515
openSNP	rs398122515
23andMe	rs398122515
SNPshot	rs398122515
SNPdbe	rs398122515
MSV3d	rs398122515
GWAS Ctlg	rs398122515

Max Magnitude

6

ClinVar
Risk	rs398122515(G;G)
Alt	rs398122515(G;G)
Reference	Rs398122515(A;A)
Significance	Pathogenic
Disease	Facial dysmorphism
Variation	info
Gene	POLE
CLNDBN	Facial dysmorphism, immunodeficiency, livedo, and short stature
Reversed	1
HGVS	NC_000012.11:g.133219990T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034317.31,