rs63750586

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	6	Lynch syndrome, pathogenic mutation
(I;I)	0	common/normal (actually, a common error normally made by 23andMe; see explanation)

Make rs63750586(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47429868

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63750586
dbSNP (classic)	rs63750586
ClinGen	rs63750586
ebi	rs63750586
HLI	rs63750586
Exac	rs63750586
Gnomad	rs63750586
Varsome	rs63750586
LitVar	rs63750586
Map	rs63750586
PheGenI	rs63750586
Biobank	rs63750586
1000 genomes	rs63750586
hgdp	rs63750586
ensembl	rs63750586
geneview	rs63750586
scholar	rs63750586
google	rs63750586
pharmgkb	rs63750586
gwascentral	rs63750586
openSNP	rs63750586
23andMe	rs63750586
SNPshot	rs63750586
SNPdbe	rs63750586
MSV3d	rs63750586
GWAS Ctlg	rs63750586

Max Magnitude

6

aka c.1203dupA (p.Gln402Thrfs)

ClinVar
Risk	rs63750586(A;A)
Alt	rs63750586(A;A)
Reference	Rs63750586(-;-)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47657007dupA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076060.2,