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rs869320619

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869320619(A;G)
Make rs869320619(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5986763
GenePMS2
is asnp
is mentioned by
dbSNPrs869320619
ebirs869320619
HLIrs869320619
Exacrs869320619
Varsomers869320619
Maprs869320619
PheGenIrs869320619
hapmaprs869320619
1000 genomesrs869320619
hgdprs869320619
ensemblrs869320619
gopubmedrs869320619
geneviewrs869320619
scholarrs869320619
googlers869320619
pharmgkbrs869320619
gwascentralrs869320619
openSNPrs869320619
23andMers869320619
23andMe allrs869320619
SNP Nexus

SNPshotrs869320619
SNPdbers869320619
MSV3drs869320619
GWAS Ctlgrs869320619
Max Magnitude0
ClinVar
Risk rs869320619(G;G)
Alt rs869320619(G;G)
Reference rs869320619(A;A)
Significance Pathogenic
Disease Turcot syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome
Reversed 1
HGVS NC_000007.13:g.6026394T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172908.2,