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rs1057515572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057515572(AGT;AGT)
Make rs1057515572(AGT;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position5987033
GenePMS2
is asnp
is mentioned by
dbSNPrs1057515572
dbSNP (old)rs1057515572
ClinGenrs1057515572
ebirs1057515572
HLIrs1057515572
Exacrs1057515572
Gnomadrs1057515572
Varsomers1057515572
Maprs1057515572
PheGenIrs1057515572
Biobankrs1057515572
1000 genomesrs1057515572
hgdprs1057515572
ensemblrs1057515572
gopubmedrs1057515572
geneviewrs1057515572
scholarrs1057515572
googlers1057515572
pharmgkbrs1057515572
gwascentralrs1057515572
openSNPrs1057515572
23andMers1057515572
23andMe allrs1057515572
SNPshotrs1057515572
SNPdbers1057515572
MSV3drs1057515572
GWAS Ctlgrs1057515572
Max Magnitude0
ClinVar
Risk rs1057515572(AGT;AGT)
Alt rs1057515572(AGT;AGT)
Reference Rs1057515572(GC;GC)
Significance Pathogenic
Disease Turcot syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome
Reversed 1
HGVS NC_000007.13:g.6026664_6026665delGCinsACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009825.3,