rs63749873

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6	Lynch syndrome, pathogenic mutation

Make rs63749873(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47795903

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs63749873
dbSNP (classic)	rs63749873
ClinGen	rs63749873
ebi	rs63749873
HLI	rs63749873
Exac	rs63749873
Gnomad	rs63749873
Varsome	rs63749873
LitVar	rs63749873
Map	rs63749873
PheGenI	rs63749873
Biobank	rs63749873
1000 genomes	rs63749873
hgdp	rs63749873
ensembl	rs63749873
geneview	rs63749873
scholar	rs63749873
google	rs63749873
pharmgkb	rs63749873
gwascentral	rs63749873
openSNP	rs63749873
23andMe	rs63749873
SNPshot	rs63749873
SNPdbe	rs63749873
MSV3d	rs63749873
GWAS Ctlg	rs63749873

Max Magnitude

6

rs63749873, also known as c.467C>G, p.Ser156Ter and S156*, represents a very rare variant in the MSH6 gene on chromosome 2.

Several sources, including ClinVar and Insight, all classify the rs63749873(G) allele as a pathogenic mutation associated with Lynch syndrome.

ClinVar
Risk	rs63749873(G;G)
Alt	rs63749873(G;G)
Reference	Rs63749873(C;C)
Significance	Pathogenic
Disease	Lynch syndrome Lynch syndrome I not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome Lynch syndrome I not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.48023042C>G
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075003.2, RCV000172813.1, RCV000201956.3, RCV000490955.1,