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rs1566734

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Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(G;G) 1 somatic mutation found once in a colon cancer
(T;T) 0 common in clinvar
Make rs1566734(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position48123823
GenePTPRJ
is asnp
is mentioned by
dbSNPrs1566734
ebirs1566734
HLIrs1566734
Exacrs1566734
Varsomers1566734
Maprs1566734
PheGenIrs1566734
hapmaprs1566734
1000 genomesrs1566734
hgdprs1566734
ensemblrs1566734
gopubmedrs1566734
geneviewrs1566734
scholarrs1566734
googlers1566734
pharmgkbrs1566734
gwascentralrs1566734
openSNPrs1566734
23andMers1566734
23andMe allrs1566734
SNP Nexus

SNPshotrs1566734
SNPdbers1566734
MSV3drs1566734
GWAS Ctlgrs1566734
GMAF0.1667
Max Magnitude1
? (G;G) (G;T) (T;T) 28

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

OMIM600925
DescCOLON CANCER, SOMATIC
Variant0002
Relatedalso


Venter snp
Source plos
Gene PTPRJ
allele C
frequency 0.142
sift TOLERATED
HuRef 1103649680136
Disease Association Defects in PTPRJ are found in cancers of colon, lung, and breast.



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
CLNACC RCV000009227.4,



[PMID 18843023] PTPRJ haplotypes and colorectal cancer risk.


GET Evidence
PTPRJ-Q276P
aa_change Gln276Pro
aa_change_short Q276P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.148355
summary This variant is associated with susceptibility to various cancers.



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