rs267607815

Orientation

minus

Stabilized

minus

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

Make rs267607815(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37025635

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs267607815
dbSNP (classic)	rs267607815
ClinGen	rs267607815
ebi	rs267607815
HLI	rs267607815
Exac	rs267607815
Gnomad	rs267607815
Varsome	rs267607815
LitVar	rs267607815
Map	rs267607815
PheGenI	rs267607815
Biobank	rs267607815
1000 genomes	rs267607815
hgdp	rs267607815
ensembl	rs267607815
geneview	rs267607815
scholar	rs267607815
google	rs267607815
pharmgkb	rs267607815
gwascentral	rs267607815
openSNP	rs267607815
23andMe	rs267607815
SNPshot	rs267607815
SNPdbe	rs267607815
MSV3d	rs267607815
GWAS Ctlg	rs267607815

Max Magnitude

6

aka c.1039-2A>C, c.1039-2A>G and c.1039-2A>T; all three of these MLH1 gene mutations are considered in ClinVar to be likely pathogenic for Lynch syndrome

ClinVar
Risk	rs267607815(A;A) rs267607815(C;C) rs267607815(G;G)
Alt	rs267607815(A;A) rs267607815(C;C) rs267607815(G;G)
Reference	Rs267607815(T;T)
Significance	Probable-Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome
Reversed	1
HGVS	NC_000003.11:g.37067126A>C; NC_000003.11:g.37067126A>G; NC_000003.11:g.37067126A>T
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000456976.1, RCV000075090.2, RCV000075091.2,