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rs63750046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AGCAGTCA) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63750046(AGCAGTCA;AGCAGTCA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47414398
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750046
dbSNP (classic)rs63750046
ClinGenrs63750046
ebirs63750046
HLIrs63750046
Exacrs63750046
Gnomadrs63750046
Varsomers63750046
LitVarrs63750046
Maprs63750046
PheGenIrs63750046
Biobankrs63750046
1000 genomesrs63750046
hgdprs63750046
ensemblrs63750046
geneviewrs63750046
scholarrs63750046
googlers63750046
pharmgkbrs63750046
gwascentralrs63750046
openSNPrs63750046
23andMers63750046
SNPshotrs63750046
SNPdbers63750046
MSV3drs63750046
GWAS Ctlgrs63750046
Max Magnitude6
ClinVar
Risk rs63750046(AGCAGTCA;AGCAGTCA)
Alt rs63750046(AGCAGTCA;AGCAGTCA)
Reference Rs63750046(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47641530_47641537dupAGCAGTCA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076749.2,