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rs63751620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position37020312
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751620
dbSNP (classic)rs63751620
ClinGenrs63751620
ebirs63751620
HLIrs63751620
Exacrs63751620
Gnomadrs63751620
Varsomers63751620
LitVarrs63751620
Maprs63751620
PheGenIrs63751620
Biobankrs63751620
1000 genomesrs63751620
hgdprs63751620
ensemblrs63751620
geneviewrs63751620
scholarrs63751620
googlers63751620
pharmgkbrs63751620
gwascentralrs63751620
openSNPrs63751620
23andMers63751620
SNPshotrs63751620
SNPdbers63751620
MSV3drs63751620
GWAS Ctlgrs63751620
Max Magnitude6
ClinVar
Risk Rs63751620(T;T) rs63751620(TCCTGACAGTTT;TCCTGACAGTTT)
Alt Rs63751620(T;T) rs63751620(TCCTGACAGTTT;TCCTGACAGTTT)
Reference Rs63751620(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37061792_37061803dupTCCTGACAGTTT; NC_000003.11:g.37061803dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075919.2, RCV000075924.2,