rs63749843

Orientation

plus

Stabilized

plus

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

Make rs63749843(C;G)

Make rs63749843(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47803449

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs63749843
dbSNP (classic)	rs63749843
ClinGen	rs63749843
ebi	rs63749843
HLI	rs63749843
Exac	rs63749843
Gnomad	rs63749843
Varsome	rs63749843
LitVar	rs63749843
Map	rs63749843
PheGenI	rs63749843
Biobank	rs63749843
1000 genomes	rs63749843
hgdp	rs63749843
ensembl	rs63749843
geneview	rs63749843
scholar	rs63749843
google	rs63749843
pharmgkb	rs63749843
gwascentral	rs63749843
openSNP	rs63749843
23andMe	rs63749843
SNPshot	rs63749843
SNPdbe	rs63749843
MSV3d	rs63749843
GWAS Ctlg	rs63749843

Max Magnitude

6

c.3202C>T (p.Arg1068Ter)

23andMe name: i5900868

ClinVar
Risk	rs63749843(A;A) rs63749843(G;G) rs63749843(T;T)
Alt	rs63749843(A;A) rs63749843(G;G) rs63749843(T;T)
Reference	Rs63749843(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome I not provided
Variation	info
Gene	MSH6
CLNDBN	Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome I not provided
Reversed	0
HGVS	NC_000002.11:g.48030588C>A; NC_000002.11:g.48030588C>T
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000218336.1, RCV000074817.3, RCV000160692.3, RCV000172816.1, RCV000201960.1,