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rs63750940

From SNPedia

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


Make rs63750940(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800834
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750940
dbSNP (classic)rs63750940
ClinGenrs63750940
ebirs63750940
HLIrs63750940
Exacrs63750940
Gnomadrs63750940
Varsomers63750940
LitVarrs63750940
Maprs63750940
PheGenIrs63750940
Biobankrs63750940
1000 genomesrs63750940
hgdprs63750940
ensemblrs63750940
geneviewrs63750940
scholarrs63750940
googlers63750940
pharmgkbrs63750940
gwascentralrs63750940
openSNPrs63750940
23andMers63750940
SNPshotrs63750940
SNPdbers63750940
MSV3drs63750940
GWAS Ctlgrs63750940
Max Magnitude6
ClinVar
Risk rs63750940(-;-)
Alt rs63750940(-;-)
Reference Rs63750940(CTCCTGGA;CTCCTGGA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027973_48027980delCTCCTGGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074785.2,