rs28929483

Orientation

plus

Stabilized

plus

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

Make rs28929483(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47475130

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs28929483
dbSNP (classic)	rs28929483
ClinGen	rs28929483
ebi	rs28929483
HLI	rs28929483
Exac	rs28929483
Gnomad	rs28929483
Varsome	rs28929483
LitVar	rs28929483
Map	rs28929483
PheGenI	rs28929483
Biobank	rs28929483
1000 genomes	rs28929483
hgdp	rs28929483
ensembl	rs28929483
geneview	rs28929483
scholar	rs28929483
google	rs28929483
pharmgkb	rs28929483
gwascentral	rs28929483
openSNP	rs28929483
23andMe	rs28929483
SNPshot	rs28929483
SNPdbe	rs28929483
MSV3d	rs28929483
GWAS Ctlg	rs28929483

Max Magnitude

6

OMIM	609309
Desc	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
Variant	0001
Related	also

ClinVar
Risk	rs28929483(A;A) rs28929483(G;G) rs28929483(T;T)
Alt	rs28929483(A;A) rs28929483(G;G) rs28929483(T;T)
Reference	Rs28929483(C;C)
Significance	Pathogenic
Disease	Lynch syndrome I not provided Hereditary cancer-predisposing syndrome Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome I not provided Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47702269C>A; NC_000002.11:g.47702269C>G; NC_000002.11:g.47702269C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000490605.1, RCV000256112.2, RCV000491622.1, RCV000001823.2, RCV000076307.2,