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rs63751618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 6 Lynch syndrome, pathogenic mutation
(AG;AG) 0 common in clinvar


Make rs63751618(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480870
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751618
dbSNP (classic)rs63751618
ClinGenrs63751618
ebirs63751618
HLIrs63751618
Exacrs63751618
Gnomadrs63751618
Varsomers63751618
LitVarrs63751618
Maprs63751618
PheGenIrs63751618
Biobankrs63751618
1000 genomesrs63751618
hgdprs63751618
ensemblrs63751618
geneviewrs63751618
scholarrs63751618
googlers63751618
pharmgkbrs63751618
gwascentralrs63751618
openSNPrs63751618
23andMers63751618
SNPshotrs63751618
SNPdbers63751618
MSV3drs63751618
GWAS Ctlgrs63751618
Max Magnitude6
ClinVar
Risk rs63751618(-;-) rs63751618(GA;GA)
Alt rs63751618(-;-) rs63751618(GA;GA)
Reference Rs63751618(AG;AG)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47708009_47708010delAG
CLNSRC Children's Hospital of Eastern Ontario International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076517.2, RCV000201958.1, RCV000213582.2,