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rs63751442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751442(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800174
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751442
dbSNP (classic)rs63751442
ClinGenrs63751442
ebirs63751442
HLIrs63751442
Exacrs63751442
Gnomadrs63751442
Varsomers63751442
LitVarrs63751442
Maprs63751442
PheGenIrs63751442
Biobankrs63751442
1000 genomesrs63751442
hgdprs63751442
ensemblrs63751442
geneviewrs63751442
scholarrs63751442
googlers63751442
pharmgkbrs63751442
gwascentralrs63751442
openSNPrs63751442
23andMers63751442
SNPshotrs63751442
SNPdbers63751442
MSV3drs63751442
GWAS Ctlgrs63751442
Max Magnitude6
ClinVar
Risk rs63751442(T;T)
Alt rs63751442(T;T)
Reference Rs63751442(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48027313C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074725.2, RCV000490877.1,