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rs141577476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome
(G;G) 0 common in clinvar
Make rs141577476(G;T)
Make rs141577476(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position6005967
GenePMS2
is asnp
is mentioned by
dbSNPrs141577476
dbSNP (classic)rs141577476
ClinGenrs141577476
ebirs141577476
HLIrs141577476
Exacrs141577476
Gnomadrs141577476
Varsomers141577476
LitVarrs141577476
Maprs141577476
PheGenIrs141577476
Biobankrs141577476
1000 genomesrs141577476
hgdprs141577476
ensemblrs141577476
geneviewrs141577476
scholarrs141577476
googlers141577476
pharmgkbrs141577476
gwascentralrs141577476
openSNPrs141577476
23andMers141577476
SNPshotrs141577476
SNPdbers141577476
MSV3drs141577476
GWAS Ctlgrs141577476
Max Magnitude6
ClinVar
Risk rs141577476(A;A) rs141577476(T;T)
Alt rs141577476(A;A) rs141577476(T;T)
Reference Rs141577476(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000007.13:g.6045598G>A; NC_000007.13:g.6045598G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000131992.2, RCV000475400.1, RCV000227509.2,