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rs587779333

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779333(A;G)
Make rs587779333(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6009019
GeneAIMP2, PMS2
is asnp
is mentioned by
dbSNPrs587779333
ebirs587779333
HLIrs587779333
Exacrs587779333
Varsomers587779333
Maprs587779333
PheGenIrs587779333
hapmaprs587779333
1000 genomesrs587779333
hgdprs587779333
ensemblrs587779333
gopubmedrs587779333
geneviewrs587779333
scholarrs587779333
googlers587779333
pharmgkbrs587779333
gwascentralrs587779333
openSNPrs587779333
23andMers587779333
23andMe allrs587779333
SNP Nexus

SNPshotrs587779333
SNPdbers587779333
MSV3drs587779333
GWAS Ctlgrs587779333
Max Magnitude0
ClinVar
Risk rs587779333(G,T;G,T)
Alt rs587779333(G,T;G,T)
Reference rs587779333(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Lynch syndrome Lynch syndrome I
Variation info
Gene AIMP2 PMS2
CLNDBN Hereditary cancer-predisposing syndrome not provided Lynch syndrome Lynch syndrome I
Reversed 1
HGVS NC_000007.13:g.6048650T>A; NC_000007.13:g.6048650T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000132181.2, RCV000218553.1, RCV000076838.3, RCV000144649.1, RCV000160894.2,