rs267607694

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

2

Position

47470970

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs267607694
dbSNP (classic)	rs267607694
ClinGen	rs267607694
ebi	rs267607694
HLI	rs267607694
Exac	rs267607694
Gnomad	rs267607694
Varsome	rs267607694
LitVar	rs267607694
Map	rs267607694
PheGenI	rs267607694
Biobank	rs267607694
1000 genomes	rs267607694
hgdp	rs267607694
ensembl	rs267607694
geneview	rs267607694
scholar	rs267607694
google	rs267607694
pharmgkb	rs267607694
gwascentral	rs267607694
openSNP	rs267607694
23andMe	rs267607694
SNPshot	rs267607694
SNPdbe	rs267607694
MSV3d	rs267607694
GWAS Ctlg	rs267607694

Max Magnitude

6

aka both c.1667delT and c.1667dupT; both are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk	rs267607694(A;A) Rs267607694(T;T)
Alt	rs267607694(A;A) Rs267607694(T;T)
Reference	Rs267607694(-;-)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47698109_47698110insA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076235.2,