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rs63750420

From SNPedia

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


Make rs63750420(-;-)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048981
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750420
dbSNP (classic)rs63750420
ClinGenrs63750420
ebirs63750420
HLIrs63750420
Exacrs63750420
Gnomadrs63750420
Varsomers63750420
LitVarrs63750420
Maprs63750420
PheGenIrs63750420
Biobankrs63750420
1000 genomesrs63750420
hgdprs63750420
ensemblrs63750420
geneviewrs63750420
scholarrs63750420
googlers63750420
pharmgkbrs63750420
gwascentralrs63750420
openSNPrs63750420
23andMers63750420
SNPshotrs63750420
SNPdbers63750420
MSV3drs63750420
GWAS Ctlgrs63750420
Max Magnitude6
ClinVar
Risk rs63750420(-;-)
Alt rs63750420(-;-)
Reference Rs63750420(AGTACAT;AGTACAT)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37090472_37090478delGTACATA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075502.2,