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rs786201121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAGACAG;ACAGACAG) 0 common in clinvar
Make rs786201121(-;-)
Make rs786201121(-;ACAGACAG)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position5995573
GenePMS2
is asnp
is mentioned by
dbSNPrs786201121
dbSNP (classic)rs786201121
ClinGenrs786201121
ebirs786201121
HLIrs786201121
Exacrs786201121
Gnomadrs786201121
Varsomers786201121
LitVarrs786201121
Maprs786201121
PheGenIrs786201121
Biobankrs786201121
1000 genomesrs786201121
hgdprs786201121
ensemblrs786201121
geneviewrs786201121
scholarrs786201121
googlers786201121
pharmgkbrs786201121
gwascentralrs786201121
openSNPrs786201121
23andMers786201121
SNPshotrs786201121
SNPdbers786201121
MSV3drs786201121
GWAS Ctlgrs786201121
Max Magnitude0
ClinVar
Risk rs786201121(-;-)
Alt rs786201121(-;-)
Reference Rs786201121(ACAGACAG;ACAGACAG)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000007.13:g.6035204_6035211delCTGTCTGT
CLNSRC
CLNACC RCV000162714.1,