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rs758048239

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758048239(-;-)
Make rs758048239(-;T)
Make rs758048239(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position5987525
GenePMS2
is asnp
is mentioned by
dbSNPrs758048239
ebirs758048239
HLIrs758048239
Exacrs758048239
Varsomers758048239
Maprs758048239
PheGenIrs758048239
hapmaprs758048239
1000 genomesrs758048239
hgdprs758048239
ensemblrs758048239
gopubmedrs758048239
geneviewrs758048239
scholarrs758048239
googlers758048239
pharmgkbrs758048239
gwascentralrs758048239
openSNPrs758048239
23andMers758048239
23andMe allrs758048239
SNP Nexus

SNPshotrs758048239
SNPdbers758048239
MSV3drs758048239
GWAS Ctlgrs758048239
Max Magnitude0
ClinVar
Risk rs758048239(CT,CTTT;CT,CTTT)
Alt rs758048239(CT,CTTT;CT,CTTT)
Reference rs758048239(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000007.13:g.6027157dupT
CLNSRC
CLNACC RCV000200079.1,