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rs587782710

From SNPedia

Orientationminus
Geno Mag Summary
(ACTCCGTG;ACTCCGTG) 0 common in clinvar
Make rs587782710(-;-)
Make rs587782710(-;ACTCCGTG)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5997376
GenePMS2
is asnp
is mentioned by
dbSNPrs587782710
ebirs587782710
HLIrs587782710
Exacrs587782710
Varsomers587782710
Maprs587782710
PheGenIrs587782710
hapmaprs587782710
1000 genomesrs587782710
hgdprs587782710
ensemblrs587782710
gopubmedrs587782710
geneviewrs587782710
scholarrs587782710
googlers587782710
pharmgkbrs587782710
gwascentralrs587782710
openSNPrs587782710
23andMers587782710
23andMe allrs587782710
SNP Nexus

SNPshotrs587782710
SNPdbers587782710
MSV3drs587782710
GWAS Ctlgrs587782710
Max Magnitude0
ClinVar
Risk rs587782710(;)
Alt rs587782710(;)
Reference rs587782710(ACTCCGTG;ACTCCGTG)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6037007_6037014delCACGGAGT
CLNSRC
CLNACC RCV000132182.2, RCV000222778.1, RCV000227297.1,