rs267607994

Orientation

plus

Stabilized

plus

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

Make rs267607994(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47476448

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs267607994
dbSNP (classic)	rs267607994
ClinGen	rs267607994
ebi	rs267607994
HLI	rs267607994
Exac	rs267607994
Gnomad	rs267607994
Varsome	rs267607994
LitVar	rs267607994
Map	rs267607994
PheGenI	rs267607994
Biobank	rs267607994
1000 genomes	rs267607994
hgdp	rs267607994
ensembl	rs267607994
geneview	rs267607994
scholar	rs267607994
google	rs267607994
pharmgkb	rs267607994
gwascentral	rs267607994
openSNP	rs267607994
23andMe	rs267607994
SNPshot	rs267607994
SNPdbe	rs267607994
MSV3d	rs267607994
GWAS Ctlg	rs267607994

Max Magnitude

6

aka c.2087C>T (p.Pro696Leu)

ClinVar
Risk	rs267607994(T;T)
Alt	rs267607994(T;T)
Reference	Rs267607994(C;C)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.47703587C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000076383.2, RCV000492029.1,