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rs760228510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome
(G;G) 0 common in clinvar
Make rs760228510(A;A)
Make rs760228510(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5999182
GenePMS2
is asnp
is mentioned by
dbSNPrs760228510
dbSNP (classic)rs760228510
ClinGenrs760228510
ebirs760228510
HLIrs760228510
Exacrs760228510
Gnomadrs760228510
Varsomers760228510
LitVarrs760228510
Maprs760228510
PheGenIrs760228510
Biobankrs760228510
1000 genomesrs760228510
hgdprs760228510
ensemblrs760228510
geneviewrs760228510
scholarrs760228510
googlers760228510
pharmgkbrs760228510
gwascentralrs760228510
openSNPrs760228510
23andMers760228510
SNPshotrs760228510
SNPdbers760228510
MSV3drs760228510
GWAS Ctlgrs760228510
Max Magnitude6
ClinVar
Risk rs760228510(A;A)
Alt rs760228510(A;A)
Reference Rs760228510(G;G)
Significance Pathogenic
Disease not provided Lynch syndrome
Variation info
Gene PMS2
CLNDBN not provided Lynch syndrome
Reversed 0
HGVS NC_000007.13:g.6038813G>A
CLNSRC
CLNACC RCV000222317.1, RCV000473579.1,