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rs63751477

From SNPedia

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


Make rs63751477(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478306
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751477
dbSNP (classic)rs63751477
ClinGenrs63751477
ebirs63751477
HLIrs63751477
Exacrs63751477
Gnomadrs63751477
Varsomers63751477
LitVarrs63751477
Maprs63751477
PheGenIrs63751477
Biobankrs63751477
1000 genomesrs63751477
hgdprs63751477
ensemblrs63751477
geneviewrs63751477
scholarrs63751477
googlers63751477
pharmgkbrs63751477
gwascentralrs63751477
openSNPrs63751477
23andMers63751477
SNPshotrs63751477
SNPdbers63751477
MSV3drs63751477
GWAS Ctlgrs63751477
Max Magnitude6
ClinVar
Risk rs63751477(A;A) rs63751477(T;T)
Alt rs63751477(A;A) rs63751477(T;T)
Reference Rs63751477(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47705445G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000076444.2, RCV000218283.1,