rs267607943

Orientation

plus

Stabilized

plus

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

Make rs267607943(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47429740

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs267607943
dbSNP (classic)	rs267607943
ClinGen	rs267607943
ebi	rs267607943
HLI	rs267607943
Exac	rs267607943
Gnomad	rs267607943
Varsome	rs267607943
LitVar	rs267607943
Map	rs267607943
PheGenI	rs267607943
Biobank	rs267607943
1000 genomes	rs267607943
hgdp	rs267607943
ensembl	rs267607943
geneview	rs267607943
scholar	rs267607943
google	rs267607943
pharmgkb	rs267607943
gwascentral	rs267607943
openSNP	rs267607943
23andMe	rs267607943
SNPshot	rs267607943
SNPdbe	rs267607943
MSV3d	rs267607943
GWAS Ctlg	rs267607943

Max Magnitude

6

ClinVar
Risk	rs267607943(C;C) rs267607943(G;G) rs267607943(T;T)
Alt	rs267607943(C;C) rs267607943(G;G) rs267607943(T;T)
Reference	Rs267607943(A;A)
Significance	Pathogenic
Disease	Lynch syndrome I Hereditary cancer-predisposing syndrome Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome I Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47656879A>C; NC_000002.11:g.47656879A>G; NC_000002.11:g.47656879A>T
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076023.2, RCV000491115.1, RCV000076024.2, RCV000491149.1, RCV000076025.2,