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rs1060503138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503138(C;T)
Make rs1060503138(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position5986874
GenePMS2
is asnp
is mentioned by
dbSNPrs1060503138
dbSNP (classic)rs1060503138
ClinGenrs1060503138
ebirs1060503138
HLIrs1060503138
Exacrs1060503138
Gnomadrs1060503138
Varsomers1060503138
LitVarrs1060503138
Maprs1060503138
PheGenIrs1060503138
Biobankrs1060503138
1000 genomesrs1060503138
hgdprs1060503138
ensemblrs1060503138
geneviewrs1060503138
scholarrs1060503138
googlers1060503138
pharmgkbrs1060503138
gwascentralrs1060503138
openSNPrs1060503138
23andMers1060503138
23andMe allrs1060503138
SNPshotrs1060503138
SNPdbers1060503138
MSV3drs1060503138
GWAS Ctlgrs1060503138
Max Magnitude0
ClinVar
Risk rs1060503138(T;T)
Alt rs1060503138(T;T)
Reference Rs1060503138(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6026505G>A
CLNSRC
CLNACC RCV000464260.1,