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rs63750735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AAAG) 6 Lynch syndrome, pathogenic mutation
(AAAG;AAAG) 0 common in clinvar


Make rs63750735(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47799789
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750735
dbSNP (classic)rs63750735
ClinGenrs63750735
ebirs63750735
HLIrs63750735
Exacrs63750735
Gnomadrs63750735
Varsomers63750735
LitVarrs63750735
Maprs63750735
PheGenIrs63750735
Biobankrs63750735
1000 genomesrs63750735
hgdprs63750735
ensemblrs63750735
geneviewrs63750735
scholarrs63750735
googlers63750735
pharmgkbrs63750735
gwascentralrs63750735
openSNPrs63750735
23andMers63750735
23andMe allrs63750735
SNPshotrs63750735
SNPdbers63750735
MSV3drs63750735
GWAS Ctlgrs63750735
Max Magnitude6

c.1806_1809delAAAG (p.Glu604Leufs)

23andMe name: i5037872

ClinVar
Risk rs63750735(-;-)
Alt rs63750735(-;-)
Reference Rs63750735(AAAG;AAAG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48026928_48026931delAAAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074687.2,