rs63750703

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 rs63750703(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47416370

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63750703
dbSNP (classic)	rs63750703
ClinGen	rs63750703
ebi	rs63750703
HLI	rs63750703
Exac	rs63750703
Gnomad	rs63750703
Varsome	rs63750703
LitVar	rs63750703
Map	rs63750703
PheGenI	rs63750703
Biobank	rs63750703
1000 genomes	rs63750703
hgdp	rs63750703
ensembl	rs63750703
geneview	rs63750703
scholar	rs63750703
google	rs63750703
pharmgkb	rs63750703
gwascentral	rs63750703
openSNP	rs63750703
23andMe	rs63750703
SNPshot	rs63750703
SNPdbe	rs63750703
MSV3d	rs63750703
GWAS Ctlg	rs63750703

Max Magnitude

6

aka c.1017_1018delAA as well as c.1018dupA; both are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk	rs63750703(-;-)
Alt	rs63750703(-;-)
Reference	Rs63750703(AA;AA)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47643509_47643510delAA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076000.2,