rs267607898

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CA)	6	Lynch syndrome
(-;CACA)	6	Lynch syndrome, pathogenic mutation
(CA;CA)	0	common/normal
(CACA;CACA)	0	common in clinvar

Make rs267607898(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37050561

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs267607898
dbSNP (classic)	rs267607898
ClinGen	rs267607898
ebi	rs267607898
HLI	rs267607898
Exac	rs267607898
Gnomad	rs267607898
Varsome	rs267607898
LitVar	rs267607898
Map	rs267607898
PheGenI	rs267607898
Biobank	rs267607898
1000 genomes	rs267607898
hgdp	rs267607898
ensembl	rs267607898
geneview	rs267607898
scholar	rs267607898
google	rs267607898
pharmgkb	rs267607898
gwascentral	rs267607898
openSNP	rs267607898
23andMe	rs267607898
SNPshot	rs267607898
SNPdbe	rs267607898
MSV3d	rs267607898
GWAS Ctlg	rs267607898

Merged from

Rs863224479

Max Magnitude

6

aka c.2177_2178delCA and also c.1883_1884dupCA; both are considered pathogenic in ClinVar for Lynch syndrome

ClinVar
Risk	rs267607898(-;-)
Alt	rs267607898(-;-)
Reference	Rs267607898(CACA;CACA)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.37092052_37092055delCACA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075569.2, RCV000164558.2, RCV000202306.2,