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rs2228006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common on affy axiom data
Make rs2228006(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position5987144
GenePMS2
is asnp
is mentioned by
dbSNPrs2228006
ebirs2228006
HLIrs2228006
Exacrs2228006
Varsomers2228006
Maprs2228006
PheGenIrs2228006
hapmaprs2228006
1000 genomesrs2228006
hgdprs2228006
ensemblrs2228006
gopubmedrs2228006
geneviewrs2228006
scholarrs2228006
googlers2228006
pharmgkbrs2228006
gwascentralrs2228006
openSNPrs2228006
23andMers2228006
23andMe allrs2228006
SNP Nexus

SNPshotrs2228006
SNPdbers2228006
MSV3drs2228006
GWAS Ctlgrs2228006
GMAF0.1208
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PMS2
allele C
frequency 0.867
sift TOLERATED
HuRef 1103652487015
Disease Association Defects in PMS2 are a cause of supratentorial primitive neuroectodermal tumors with cafe-au-lait spots (SNTCL) (MIM:608623). Supratentorial primitive neuroectodermal tumor (SPNET) is a rare and aggressive embryonal tumor, most likely derived from primitive neuroepithelial cells. SPNET has a poor prognosis, with median survival of less than 2 years.



[PMID 18723338] Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.


ClinVar
Risk rs2228006(G;G)
Alt rs2228006(G;G)
Reference rs2228006(A;A)
Significance Non-pathogenic
Disease Lynch syndrome not provided not specified
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided not specified
Reversed 1
HGVS NC_000007.13:g.6026775T\x3d; NC_000007.13:g.6026775T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030365.3, RCV000034619.3, RCV000212862.1, RCV000121840.3,