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rs876660459

From SNPedia

Orientationminus
Geno Mag Summary
(AGCACTTCCGT;AGCACTTCCGT) 0 common in clinvar
Make rs876660459(-;-)
Make rs876660459(-;AGCACTTCCGT)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5987263
GenePMS2
is asnp
is mentioned by
dbSNPrs876660459
ebirs876660459
HLIrs876660459
Exacrs876660459
Varsomers876660459
Maprs876660459
PheGenIrs876660459
hapmaprs876660459
1000 genomesrs876660459
hgdprs876660459
ensemblrs876660459
gopubmedrs876660459
geneviewrs876660459
scholarrs876660459
googlers876660459
pharmgkbrs876660459
gwascentralrs876660459
openSNPrs876660459
23andMers876660459
23andMe allrs876660459
SNP Nexus

SNPshotrs876660459
SNPdbers876660459
MSV3drs876660459
GWAS Ctlgrs876660459
Max Magnitude0
ClinVar
Risk rs876660459(;)
Alt rs876660459(;)
Reference rs876660459(AGCACTTCCGT;AGCACTTCCGT)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6026894_6026904delACGGAAGTGCT
CLNSRC
CLNACC RCV000221161.1,