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rs63751466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs63751466(C;T)
Make rs63751466(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5977629
GenePMS2
is asnp
is mentioned by
dbSNPrs63751466
ebirs63751466
HLIrs63751466
Exacrs63751466
Varsomers63751466
Maprs63751466
PheGenIrs63751466
hapmaprs63751466
1000 genomesrs63751466
hgdprs63751466
ensemblrs63751466
gopubmedrs63751466
geneviewrs63751466
scholarrs63751466
googlers63751466
pharmgkbrs63751466
gwascentralrs63751466
openSNPrs63751466
23andMers63751466
23andMe allrs63751466
SNP Nexus

SNPshotrs63751466
SNPdbers63751466
MSV3drs63751466
GWAS Ctlgrs63751466
Max Magnitude0
OMIM600259
Desc
Variant0004
Relatedalso
ClinVar
Risk rs63751466(T;T)
Alt rs63751466(T;T)
Reference rs63751466(C;C)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6017260G>A; NC_000007.13:g.6017260G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009818.2, RCV000076858.2, RCV000129304.2, RCV000223473.1,