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rs63750393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs63750393(-;-)
Make rs63750393(-;GA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47471008
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750393
ClinGenrs63750393
ebirs63750393
HLIrs63750393
Exacrs63750393
Varsomers63750393
Maprs63750393
PheGenIrs63750393
hapmaprs63750393
1000 genomesrs63750393
hgdprs63750393
ensemblrs63750393
gopubmedrs63750393
geneviewrs63750393
scholarrs63750393
googlers63750393
pharmgkbrs63750393
gwascentralrs63750393
openSNPrs63750393
23andMers63750393
23andMe allrs63750393
SNP Nexus

SNPshotrs63750393
SNPdbers63750393
MSV3drs63750393
GWAS Ctlgrs63750393
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs63750393(AG;AG)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47698147_47698148delGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030243.3, RCV000115505.3,


[PMID 20007] [A case of acute ischemia of the extremities in disseminated intravascular coagulation in an infant].


[PMID 11920650] Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.


[PMID 12362047OA-icon.png] Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.


[PMID 12414824OA-icon.png] Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.


[PMID 19698169OA-icon.png] Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.


[PMID 19706203OA-icon.png] Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.