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rs63750075

From SNPedia

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


Make rs63750075(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800045
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750075
dbSNP (classic)rs63750075
ClinGenrs63750075
ebirs63750075
HLIrs63750075
Exacrs63750075
Gnomadrs63750075
Varsomers63750075
LitVarrs63750075
Maprs63750075
PheGenIrs63750075
Biobankrs63750075
1000 genomesrs63750075
hgdprs63750075
ensemblrs63750075
geneviewrs63750075
scholarrs63750075
googlers63750075
pharmgkbrs63750075
gwascentralrs63750075
openSNPrs63750075
23andMers63750075
SNPshotrs63750075
SNPdbers63750075
MSV3drs63750075
GWAS Ctlgrs63750075
Max Magnitude6

c.2062_2063delGT (p.Val688Leufs)

23andMe name: i5037857

ClinVar
Risk rs63750075(-;-)
Alt rs63750075(-;-)
Reference Rs63750075(TG;TG)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48027184_48027185delGT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074711.2, RCV000165752.2,