rs111052004

Orientation

plus

Stabilized

plus

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

Make rs111052004(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

36993549

Gene	EPM2AIP1, MLH1

is a	snp
is	mentioned by
dbSNP	rs111052004
dbSNP (classic)	rs111052004
ClinGen	rs111052004
ebi	rs111052004
HLI	rs111052004
Exac	rs111052004
Gnomad	rs111052004
Varsome	rs111052004
LitVar	rs111052004
Map	rs111052004
PheGenI	rs111052004
Biobank	rs111052004
1000 genomes	rs111052004
hgdp	rs111052004
ensembl	rs111052004
geneview	rs111052004
scholar	rs111052004
google	rs111052004
pharmgkb	rs111052004
gwascentral	rs111052004
openSNP	rs111052004
23andMe	rs111052004
SNPshot	rs111052004
SNPdbe	rs111052004
MSV3d	rs111052004
GWAS Ctlg	rs111052004

Max Magnitude

6

ClinVar
Risk	rs111052004(A;A) rs111052004(C;C) rs111052004(G;G)
Alt	rs111052004(A;A) rs111052004(C;C) rs111052004(G;G)
Reference	Rs111052004(T;T)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	EPM2AIP1 MLH1
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37035040T>A; NC_000003.11:g.37035040T>C; NC_000003.11:g.37035040T>G
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075620.2, RCV000075621.2, RCV000075622.2,