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rs111466480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111466480(A;C)
Make rs111466480(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position6003688
GenePMS2
is asnp
is mentioned by
dbSNPrs111466480
dbSNP (old)rs111466480
ClinGenrs111466480
ebirs111466480
HLIrs111466480
Exacrs111466480
Gnomadrs111466480
Varsomers111466480
Maprs111466480
PheGenIrs111466480
Biobankrs111466480
1000 genomesrs111466480
hgdprs111466480
ensemblrs111466480
gopubmedrs111466480
geneviewrs111466480
scholarrs111466480
googlers111466480
pharmgkbrs111466480
gwascentralrs111466480
openSNPrs111466480
23andMers111466480
23andMe allrs111466480
SNPshotrs111466480
SNPdbers111466480
MSV3drs111466480
GWAS Ctlgrs111466480
Max Magnitude0
ClinVar
Risk rs111466480(C;C) rs111466480(G;G)
Alt rs111466480(C;C) rs111466480(G;G)
Reference Rs111466480(A;A)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000007.13:g.6043319A>G
CLNSRC
CLNACC RCV000468932.1,