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rs63750728

From SNPedia

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


Make rs63750728(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403285
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750728
dbSNP (classic)rs63750728
ClinGenrs63750728
ebirs63750728
HLIrs63750728
Exacrs63750728
Gnomadrs63750728
Varsomers63750728
LitVarrs63750728
Maprs63750728
PheGenIrs63750728
Biobankrs63750728
1000 genomesrs63750728
hgdprs63750728
ensemblrs63750728
geneviewrs63750728
scholarrs63750728
googlers63750728
pharmgkbrs63750728
gwascentralrs63750728
openSNPrs63750728
23andMers63750728
SNPshotrs63750728
SNPdbers63750728
MSV3drs63750728
GWAS Ctlgrs63750728
Max Magnitude6
ClinVar
Risk rs63750728(-;-)
Alt rs63750728(-;-)
Reference Rs63750728(CACCACAGTG;CACCACAGTG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47630424_47630433delACCACAGTGC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076762.2,