rs63749897

Orientation

plus

Stabilized

plus

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

Make rs63749897(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47412455

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63749897
dbSNP (classic)	rs63749897
ClinGen	rs63749897
ebi	rs63749897
HLI	rs63749897
Exac	rs63749897
Gnomad	rs63749897
Varsome	rs63749897
LitVar	rs63749897
Map	rs63749897
PheGenI	rs63749897
Biobank	rs63749897
1000 genomes	rs63749897
hgdp	rs63749897
ensembl	rs63749897
geneview	rs63749897
scholar	rs63749897
google	rs63749897
pharmgkb	rs63749897
gwascentral	rs63749897
openSNP	rs63749897
23andMe	rs63749897
SNPshot	rs63749897
SNPdbe	rs63749897
MSV3d	rs63749897
GWAS Ctlg	rs63749897

Max Magnitude

6

aka c.687delA as well as c.687dupA as well as c.686_687delAA; all are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk	rs63749897(-;-)
Alt	rs63749897(-;-)
Reference	Rs63749897(A;A)
Significance	Pathogenic
Disease	Lynch syndrome not provided
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome not provided
Reversed	0
HGVS	NC_000002.11:g.47639594delA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076681.2, RCV000202204.1,