rs63750597

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	6	Likely miscall in 23andMe v4 or older data; otherwise, Lynch syndrome, pathogenic mutation
(G;G)	0	common in clinvar

Make rs63750597(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47466808

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63750597
dbSNP (classic)	rs63750597
ClinGen	rs63750597
ebi	rs63750597
HLI	rs63750597
Exac	rs63750597
Gnomad	rs63750597
Varsome	rs63750597
LitVar	rs63750597
Map	rs63750597
PheGenI	rs63750597
Biobank	rs63750597
1000 genomes	rs63750597
hgdp	rs63750597
ensembl	rs63750597
geneview	rs63750597
scholar	rs63750597
google	rs63750597
pharmgkb	rs63750597
gwascentral	rs63750597
openSNP	rs63750597
23andMe	rs63750597
SNPshot	rs63750597
SNPdbe	rs63750597
MSV3d	rs63750597
GWAS Ctlg	rs63750597

Max Magnitude

6

aka c.1661G>C (p.Ser554Thr) more commonly as tested on DNA chips; but note that c.1661G>A (p.Ser554Asn) is also a known pathogenic mutation

ClinVar
Risk	rs63750597(A;A) rs63750597(C;C)
Alt	rs63750597(A;A) rs63750597(C;C)
Reference	Rs63750597(G;G)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.47693947G>C
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076221.2, RCV000491785.1,