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rs863225407

From SNPedia

Merged intors587782562
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225407(-;ATGA)
Make rs863225407(ATGA;ATGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position47803582
GeneMSH6
is asnp
is mentioned by
dbSNPrs863225407
dbSNP (classic)rs863225407
ClinGenrs863225407
ebirs863225407
HLIrs863225407
Exacrs863225407
Gnomadrs863225407
Varsomers863225407
LitVarrs863225407
Maprs863225407
PheGenIrs863225407
Biobankrs863225407
1000 genomesrs863225407
hgdprs863225407
ensemblrs863225407
geneviewrs863225407
scholarrs863225407
googlers863225407
pharmgkbrs863225407
gwascentralrs863225407
openSNPrs863225407
23andMers863225407
SNPshotrs863225407
SNPdbers863225407
MSV3drs863225407
GWAS Ctlgrs863225407
StatusMerged into rs587782562
Max Magnitude0
ClinVar
Risk rs863225407(AATG;AATG)
Alt rs863225407(AATG;AATG)
Reference Rs863225407(;)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48030718_48030721dupATGA
CLNSRC
CLNACC RCV000131783.2, RCV000202177.1, RCV000221780.1, RCV000233414.1,