rs281864936

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GA)	6	Lynch syndrome, pathogenic mutation
(-;GAGA)	6	Lynch syndrome, pathogenic mutation
(AGAG;AGAG)	0	common in clinvar
(GA;GA)	0	common/normal
(GAGA;GAGA)	0	common in clinvar

Make rs281864936(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37028787

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs281864936
dbSNP (classic)	rs281864936
ClinGen	rs281864936
ebi	rs281864936
HLI	rs281864936
Exac	rs281864936
Gnomad	rs281864936
Varsome	rs281864936
LitVar	rs281864936
Map	rs281864936
PheGenI	rs281864936
Biobank	rs281864936
1000 genomes	rs281864936
hgdp	rs281864936
ensembl	rs281864936
geneview	rs281864936
scholar	rs281864936
google	rs281864936
pharmgkb	rs281864936
gwascentral	rs281864936
openSNP	rs281864936
23andMe	rs281864936
SNPshot	rs281864936
SNPdbe	rs281864936
MSV3d	rs281864936
GWAS Ctlg	rs281864936

Max Magnitude

6

aka c.1119_1122delGAGA and also c.1119_1120delGA; both are considered pathogenic in ClinVar for Lynch syndrome

ClinVar
Risk	rs281864936(-;-)
Alt	rs281864936(-;-)
Reference	Rs281864936(AGAG;AGAG)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37070278_37070281delGAGA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075204.2,