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rs63750246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CA) 6 Lynch syndrome, pathogenic mutation
(CA;CA) 0 common in clinvar


Make rs63750246(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position5995574
GenePMS2
is asnp
is mentioned by
dbSNPrs63750246
dbSNP (classic)rs63750246
ClinGenrs63750246
ebirs63750246
HLIrs63750246
Exacrs63750246
Gnomadrs63750246
Varsomers63750246
LitVarrs63750246
Maprs63750246
PheGenIrs63750246
Biobankrs63750246
1000 genomesrs63750246
hgdprs63750246
ensemblrs63750246
geneviewrs63750246
scholarrs63750246
googlers63750246
pharmgkbrs63750246
gwascentralrs63750246
openSNPrs63750246
23andMers63750246
SNPshotrs63750246
SNPdbers63750246
MSV3drs63750246
GWAS Ctlgrs63750246
Max Magnitude6
ClinVar
Risk rs63750246(-;-)
Alt rs63750246(-;-)
Reference Rs63750246(CA;CA)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4
Reversed 1
HGVS NC_000007.13:g.6035205_6035206delTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076895.3, RCV000165221.1, RCV000411556.1,