rs63750094

Orientation

plus

Stabilized

plus

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

Make rs63750094(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47466723

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63750094
dbSNP (classic)	rs63750094
ClinGen	rs63750094
ebi	rs63750094
HLI	rs63750094
Exac	rs63750094
Gnomad	rs63750094
Varsome	rs63750094
LitVar	rs63750094
Map	rs63750094
PheGenI	rs63750094
Biobank	rs63750094
1000 genomes	rs63750094
hgdp	rs63750094
ensembl	rs63750094
geneview	rs63750094
scholar	rs63750094
google	rs63750094
pharmgkb	rs63750094
gwascentral	rs63750094
openSNP	rs63750094
23andMe	rs63750094
SNPshot	rs63750094
SNPdbe	rs63750094
MSV3d	rs63750094
GWAS Ctlg	rs63750094

Max Magnitude

6

aka both c.1576dupA and c.1576delA; both are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk	rs63750094(-;-)
Alt	rs63750094(-;-)
Reference	Rs63750094(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.47693862delA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076199.2, RCV000479550.1,