rs63749831

plus

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

Make rs63749831(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47475051

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63749831
dbSNP (classic)	rs63749831
ClinGen	rs63749831
ebi	rs63749831
HLI	rs63749831
Exac	rs63749831
Gnomad	rs63749831
Varsome	rs63749831
LitVar	rs63749831
Map	rs63749831
PheGenI	rs63749831
Biobank	rs63749831
1000 genomes	rs63749831
hgdp	rs63749831
ensembl	rs63749831
geneview	rs63749831
scholar	rs63749831
google	rs63749831
pharmgkb	rs63749831
gwascentral	rs63749831
openSNP	rs63749831
23andMe	rs63749831
SNPshot	rs63749831
SNPdbe	rs63749831
MSV3d	rs63749831
GWAS Ctlg	rs63749831

Max Magnitude

6

rs63749831, also known as c.1786_1788delAAT, p.Asn596del and N596del, is a very rare mutation in the MSH2 gene on chromosome 2.

Acting in an autosomal dominant manner, the rs63749831(-) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.

See also OMIM 609309.0005

Although present on the v3 chip under it's real (public) name, it appears that this mutation has been renamed by 23andMe to a private name, i5900861, on their v4 chip.

ClinVar
Risk	rs63749831(-;-)
Alt	rs63749831(-;-)
Reference	Rs63749831(AAT;AAT)
Significance	Pathogenic
Disease	Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000002.11:g.47702190_47702192delAAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001827.4, RCV000076285.3, RCV000128908.5, RCV000202293.1,