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rs193922370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation


Make rs193922370(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position37008813
GeneMLH1
is asnp
is mentioned by
dbSNPrs193922370
dbSNP (classic)rs193922370
ClinGenrs193922370
ebirs193922370
HLIrs193922370
Exacrs193922370
Gnomadrs193922370
Varsomers193922370
LitVarrs193922370
Maprs193922370
PheGenIrs193922370
Biobankrs193922370
1000 genomesrs193922370
hgdprs193922370
ensemblrs193922370
geneviewrs193922370
scholarrs193922370
googlers193922370
pharmgkbrs193922370
gwascentralrs193922370
openSNPrs193922370
23andMers193922370
SNPshotrs193922370
SNPdbers193922370
MSV3drs193922370
GWAS Ctlgrs193922370
Max Magnitude6
ClinVar
Risk rs193922370(A;A) rs193922370(C;C) rs193922370(T;T)
Alt rs193922370(A;A) rs193922370(C;C) rs193922370(T;T)
Reference Rs193922370(G;G)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome II
Variation info
Gene MLH1
CLNDBN Lynch syndrome Lynch syndrome II
Reversed 0
HGVS NC_000003.11:g.37050304G>A; NC_000003.11:g.37050304G>C; NC_000003.11:g.37050304G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030226.3, RCV000410339.1, RCV000472090.1, RCV000075720.2,


[PMID 7584997] Founding mutations and Alu-mediated recombination in hereditary colon cancer.