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rs63750250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(D;D) 0
Make rs63750250(-;-)
Make rs63750250(-;A)
Make rs63750250(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position5986933
GenePMS2
is asnp
is mentioned by
dbSNPrs63750250
ebirs63750250
HLIrs63750250
Exacrs63750250
Varsomers63750250
Maprs63750250
PheGenIrs63750250
hapmaprs63750250
1000 genomesrs63750250
hgdprs63750250
ensemblrs63750250
gopubmedrs63750250
geneviewrs63750250
scholarrs63750250
googlers63750250
pharmgkbrs63750250
gwascentralrs63750250
openSNPrs63750250
23andMers63750250
23andMe allrs63750250
SNP Nexus

SNPshotrs63750250
SNPdbers63750250
MSV3drs63750250
GWAS Ctlgrs63750250
Max Magnitude0
ClinVar
Risk rs63750250(A;A)
Alt rs63750250(A;A)
Reference rs63750250(;)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome I
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome I
Reversed 1
HGVS NC_000007.13:g.6026565dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076830.3, RCV000115666.3, RCV000121837.1, RCV000144653.1,