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rs63751167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GTGA) 6 Lynch syndrome, pathogenic mutation
(D;D) 0
Make rs63751167(GTGA;GTGA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47799943
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751167
dbSNP (classic)rs63751167
ClinGenrs63751167
ebirs63751167
HLIrs63751167
Exacrs63751167
Gnomadrs63751167
Varsomers63751167
LitVarrs63751167
Maprs63751167
PheGenIrs63751167
Biobankrs63751167
1000 genomesrs63751167
hgdprs63751167
ensemblrs63751167
geneviewrs63751167
scholarrs63751167
googlers63751167
pharmgkbrs63751167
gwascentralrs63751167
openSNPrs63751167
23andMers63751167
SNPshotrs63751167
SNPdbers63751167
MSV3drs63751167
GWAS Ctlgrs63751167
Max Magnitude6
ClinVar
Risk rs63751167(GTGA;GTGA)
Alt rs63751167(GTGA;GTGA)
Reference Rs63751167(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027079_48027082dupGTGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074699.2,