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rs17420802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17420802(A;G)
Make rs17420802(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5977709
GenePMS2
is asnp
is mentioned by
dbSNPrs17420802
ebirs17420802
HLIrs17420802
Exacrs17420802
Varsomers17420802
Maprs17420802
PheGenIrs17420802
hapmaprs17420802
1000 genomesrs17420802
hgdprs17420802
ensemblrs17420802
gopubmedrs17420802
geneviewrs17420802
scholarrs17420802
googlers17420802
pharmgkbrs17420802
gwascentralrs17420802
openSNPrs17420802
23andMers17420802
23andMe allrs17420802
SNP Nexus

SNPshotrs17420802
SNPdbers17420802
MSV3drs17420802
GWAS Ctlgrs17420802
Merged fromRs1059060
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs17420802(G;G)
Alt rs17420802(G;G)
Reference rs17420802(A;A)
Significance Non-pathogenic
Disease Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I
Variation info
Gene PMS2
CLNDBN Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I
Reversed 1
HGVS NC_000007.13:g.6017340T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours Mayo Clinic
CLNACC RCV000030368.4, RCV000079108.7, RCV000130364.2, RCV000144644.1,



[PMID 17253] [Scientific basis for production of erythrocyte diagnosticums].

[PMID 10479499] Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability.

[PMID 14756672] Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.

[PMID 19526325] Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

[PMID 20186688] Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

[PMID 20205264] Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.