rs281864944

Orientation

plus

Stabilized

plus

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

Make rs281864944(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47412472

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs281864944
dbSNP (classic)	rs281864944
ClinGen	rs281864944
ebi	rs281864944
HLI	rs281864944
Exac	rs281864944
Gnomad	rs281864944
Varsome	rs281864944
LitVar	rs281864944
Map	rs281864944
PheGenI	rs281864944
Biobank	rs281864944
1000 genomes	rs281864944
hgdp	rs281864944
ensembl	rs281864944
geneview	rs281864944
scholar	rs281864944
google	rs281864944
pharmgkb	rs281864944
gwascentral	rs281864944
openSNP	rs281864944
23andMe	rs281864944
SNPshot	rs281864944
SNPdbe	rs281864944
MSV3d	rs281864944
GWAS Ctlg	rs281864944

Max Magnitude

6

aka c.704_705delAA as well as c.705delA; both are considered pathogenic in ClinVar for Lynch syndrome

ClinVar
Risk	rs281864944(-;-)
Alt	rs281864944(-;-)
Reference	Rs281864944(AA;AA)
Significance	Pathogenic
Disease	Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.47639611_47639612delAA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076686.2, RCV000484029.1, RCV000491296.1,