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rs587778973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GA) 6 Likely miscall in Ancestry v2c data; otherwise, Lynch syndrome, pathogenic mutation
(AG;AG) 0 common in clinvar
(GA;GA) 0 common/normal


Make rs587778973(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position37000954
GeneMLH1
is asnp
is mentioned by
dbSNPrs587778973
dbSNP (classic)rs587778973
ClinGenrs587778973
ebirs587778973
HLIrs587778973
Exacrs587778973
Gnomadrs587778973
Varsomers587778973
LitVarrs587778973
Maprs587778973
PheGenIrs587778973
Biobankrs587778973
1000 genomesrs587778973
hgdprs587778973
ensemblrs587778973
geneviewrs587778973
scholarrs587778973
googlers587778973
pharmgkbrs587778973
gwascentralrs587778973
openSNPrs587778973
23andMers587778973
SNPshotrs587778973
SNPdbers587778973
MSV3drs587778973
GWAS Ctlgrs587778973
Max Magnitude6

aka c.208-1_208delGA

ClinVar
Risk rs587778973(-;-)
Alt rs587778973(-;-)
Reference Rs587778973(AG;AG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37042445_37042446delGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075515.2,