rs1566734

minus

Geno	Mag	Summary
(A;A)	0
(G;G)	1	somatic mutation found once in a colon cancer
(G;T)	0.5	Somatic mutation, cancer associated
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

48123823

Gene

PTPRJ

is a	snp
is	mentioned by
dbSNP	rs1566734
dbSNP (classic)	rs1566734
ClinGen	rs1566734
ebi	rs1566734
HLI	rs1566734
Exac	rs1566734
Gnomad	rs1566734
Varsome	rs1566734
LitVar	rs1566734
Map	rs1566734
PheGenI	rs1566734
Biobank	rs1566734
1000 genomes	rs1566734
hgdp	rs1566734
ensembl	rs1566734
geneview	rs1566734
scholar	rs1566734
google	rs1566734
pharmgkb	rs1566734
gwascentral	rs1566734
openSNP	rs1566734
23andMe	rs1566734
SNPshot	rs1566734
SNPdbe	rs1566734
MSV3d	rs1566734
GWAS Ctlg	rs1566734

GMAF

0.1667

Max Magnitude

1

?

(G;G) (G;T) (T;T)

28

NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP

OMIM	600925
Desc	COLON CANCER, SOMATIC
Variant	0002
Related	also

ClinVar
Risk	Rs1566734(G;G)
Alt	Rs1566734(G;G)
Reference	Rs1566734(T;T)
Significance	Pathogenic
Disease	Carcinoma of colon
Variation	info
Gene	PTPRJ
CLNDBN	Carcinoma of colon
Reversed	1
HGVS	NC_000011.9:g.48145375A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009227.4,

[PMID 18843023] PTPRJ haplotypes and colorectal cancer risk.

[PMID 23341091] High-resolution loss of heterozygosity screening implicates PTPRJ as a potential tumor suppressor gene that affects susceptibility to non-hodgkin's lymphoma

[PMID 30661225 ] Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk.