rs267608048

Orientation

plus

Stabilized

plus

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

Make rs267608048(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47798738

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs267608048
dbSNP (classic)	rs267608048
ClinGen	rs267608048
ebi	rs267608048
HLI	rs267608048
Exac	rs267608048
Gnomad	rs267608048
Varsome	rs267608048
LitVar	rs267608048
Map	rs267608048
PheGenI	rs267608048
Biobank	rs267608048
1000 genomes	rs267608048
hgdp	rs267608048
ensembl	rs267608048
geneview	rs267608048
scholar	rs267608048
google	rs267608048
pharmgkb	rs267608048
gwascentral	rs267608048
openSNP	rs267608048
23andMe	rs267608048
SNPshot	rs267608048
SNPdbe	rs267608048
MSV3d	rs267608048
GWAS Ctlg	rs267608048

Max Magnitude

6

c.755C>G (p.Ser252Ter)

23andMe name: i6015131

ClinVar
Risk	rs267608048(G;G)
Alt	rs267608048(G;G)
Reference	Rs267608048(C;C)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.48025877C>G
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075035.2,