rs63751207

plus

Geno	Mag	Summary
(C;G)	6	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(G;G)	0	common in clinvar

Make rs63751207(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47466718

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs63751207
dbSNP (classic)	rs63751207
ClinGen	rs63751207
ebi	rs63751207
HLI	rs63751207
Exac	rs63751207
Gnomad	rs63751207
Varsome	rs63751207
LitVar	rs63751207
Map	rs63751207
PheGenI	rs63751207
Biobank	rs63751207
1000 genomes	rs63751207
hgdp	rs63751207
ensembl	rs63751207
geneview	rs63751207
scholar	rs63751207
google	rs63751207
pharmgkb	rs63751207
gwascentral	rs63751207
openSNP	rs63751207
23andMe	rs63751207
SNPshot	rs63751207
SNPdbe	rs63751207
MSV3d	rs63751207
GWAS Ctlg	rs63751207

Max Magnitude

6

rs63751207 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 7937795 ]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249 ]

See also OMIM 609309.0007

OMIM	609309
Desc
Variant	0007
Related	also

ClinVar
Risk	rs63751207(A;A) rs63751207(C;C) rs63751207(T;T)
Alt	rs63751207(A;A) rs63751207(C;C) rs63751207(T;T)
Reference	Rs63751207(G;G)
Significance	Pathogenic
Disease	not specified Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome I not provided
Variation	info
Gene	MSH2
CLNDBN	not specified Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome I not provided
Reversed	0
HGVS	NC_000002.11:g.47693857G>A; NC_000002.11:g.47693857G>C; NC_000002.11:g.47693857G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000160592.3, RCV000218047.1, RCV000228006.2, RCV000001829.2, RCV000076197.2, RCV000165648.1, RCV000256140.1, RCV000076198.2, RCV000165745.1,