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rs762485848

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs762485848(-;-)
Make rs762485848(-;C)
Make rs762485848(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position6003717
GenePMS2
is asnp
is mentioned by
dbSNPrs762485848
ebirs762485848
HLIrs762485848
Exacrs762485848
Varsomers762485848
Maprs762485848
PheGenIrs762485848
hapmaprs762485848
1000 genomesrs762485848
hgdprs762485848
ensemblrs762485848
gopubmedrs762485848
geneviewrs762485848
scholarrs762485848
googlers762485848
pharmgkbrs762485848
gwascentralrs762485848
openSNPrs762485848
23andMers762485848
23andMe allrs762485848
SNP Nexus

SNPshotrs762485848
SNPdbers762485848
MSV3drs762485848
GWAS Ctlgrs762485848
Max Magnitude0
ClinVar
Risk rs762485848(C;C)
Alt rs762485848(C;C)
Reference rs762485848(;)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000007.13:g.6043349dupC
CLNSRC
CLNACC RCV000218863.1,