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rs1060503142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060503142(A;T)
Make rs1060503142(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position5987417
GenePMS2
is asnp
is mentioned by
dbSNPrs1060503142
dbSNP (classic)rs1060503142
ClinGenrs1060503142
ebirs1060503142
HLIrs1060503142
Exacrs1060503142
Gnomadrs1060503142
Varsomers1060503142
LitVarrs1060503142
Maprs1060503142
PheGenIrs1060503142
Biobankrs1060503142
1000 genomesrs1060503142
hgdprs1060503142
ensemblrs1060503142
geneviewrs1060503142
scholarrs1060503142
googlers1060503142
pharmgkbrs1060503142
gwascentralrs1060503142
openSNPrs1060503142
23andMers1060503142
SNPshotrs1060503142
SNPdbers1060503142
MSV3drs1060503142
GWAS Ctlgrs1060503142
Max Magnitude0
ClinVar
Risk rs1060503142(T;T)
Alt rs1060503142(T;T)
Reference Rs1060503142(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6027048T>A
CLNSRC
CLNACC RCV000466795.1,