rs121912965

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AC;TG)	6	Lynch syndrome, pathogenic mutation
(TG;TG)	0	common in clinvar

Make rs121912965(AC;AC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

36993651

Gene	EPM2AIP1, MLH1

is a	snp
is	mentioned by
dbSNP	rs121912965
dbSNP (classic)	rs121912965
ClinGen	rs121912965
ebi	rs121912965
HLI	rs121912965
Exac	rs121912965
Gnomad	rs121912965
Varsome	rs121912965
LitVar	rs121912965
Map	rs121912965
PheGenI	rs121912965
Biobank	rs121912965
1000 genomes	rs121912965
hgdp	rs121912965
ensembl	rs121912965
geneview	rs121912965
scholar	rs121912965
google	rs121912965
pharmgkb	rs121912965
gwascentral	rs121912965
openSNP	rs121912965
23andMe	rs121912965
SNPshot	rs121912965
SNPdbe	rs121912965
MSV3d	rs121912965
GWAS Ctlg	rs121912965

Max Magnitude

6

OMIM	120436
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121912965(AC;AC)
Alt	rs121912965(AC;AC)
Reference	Rs121912965(TG;TG)
Significance	Pathogenic
Disease	Turcot syndrome Lynch syndrome II Lynch syndrome
Variation	info
Gene	EPM2AIP1 MLH1
CLNDBN	Turcot syndrome Lynch syndrome II Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37035142_37035143delTGinsAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018639.28, RCV000018640.28, RCV000075101.2,