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rs63751119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(C;G) 6 Lynch syndrome
(G;G) 0 common in clinvar


Make rs63751119(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478312
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751119
dbSNP (classic)rs63751119
ClinGenrs63751119
ebirs63751119
HLIrs63751119
Exacrs63751119
Gnomadrs63751119
Varsomers63751119
LitVarrs63751119
Maprs63751119
PheGenIrs63751119
Biobankrs63751119
1000 genomesrs63751119
hgdprs63751119
ensemblrs63751119
geneviewrs63751119
scholarrs63751119
googlers63751119
pharmgkbrs63751119
gwascentralrs63751119
openSNPrs63751119
23andMers63751119
SNPshotrs63751119
SNPdbers63751119
MSV3drs63751119
GWAS Ctlgrs63751119
Max Magnitude6
ClinVar
Risk rs63751119(A;A)
Alt rs63751119(A;A)
Reference Rs63751119(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47705451G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076445.2,