Have questions? Visit https://www.reddit.com/r/SNPedia

rs63751327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
(-;AA) 6 Lynch syndrome
(I;I) 0
Make rs63751327(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47804985
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751327
dbSNP (classic)rs63751327
ClinGenrs63751327
ebirs63751327
HLIrs63751327
Exacrs63751327
Gnomadrs63751327
Varsomers63751327
LitVarrs63751327
Maprs63751327
PheGenIrs63751327
Biobankrs63751327
1000 genomesrs63751327
hgdprs63751327
ensemblrs63751327
geneviewrs63751327
scholarrs63751327
googlers63751327
pharmgkbrs63751327
gwascentralrs63751327
openSNPrs63751327
23andMers63751327
SNPshotrs63751327
SNPdbers63751327
MSV3drs63751327
GWAS Ctlgrs63751327
Max Magnitude6
ClinVar
Risk rs63751327(A;A) rs63751327(AA;AA)
Alt rs63751327(A;A) rs63751327(AA;AA)
Reference Rs63751327(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5
Reversed 0
HGVS NC_000002.11:g.48032124_48032125insAA; NC_000002.11:g.48032124dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491489.1, RCV000074872.2, RCV000166347.3, RCV000202194.1, RCV000409599.1,