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rs1060503148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060503148(-;-)
Make rs1060503148(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position6005926
GenePMS2
is asnp
is mentioned by
dbSNPrs1060503148
dbSNP (classic)rs1060503148
ClinGenrs1060503148
ebirs1060503148
HLIrs1060503148
Exacrs1060503148
Gnomadrs1060503148
Varsomers1060503148
LitVarrs1060503148
Maprs1060503148
PheGenIrs1060503148
Biobankrs1060503148
1000 genomesrs1060503148
hgdprs1060503148
ensemblrs1060503148
geneviewrs1060503148
scholarrs1060503148
googlers1060503148
pharmgkbrs1060503148
gwascentralrs1060503148
openSNPrs1060503148
23andMers1060503148
SNPshotrs1060503148
SNPdbers1060503148
MSV3drs1060503148
GWAS Ctlgrs1060503148
Max Magnitude0
ClinVar
Risk rs1060503148(-;-)
Alt rs1060503148(-;-)
Reference Rs1060503148(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6045557delT
CLNSRC
CLNACC RCV000472832.1,