rs63750451

minus

Geno	Mag	Summary
(A;G)	6	Lynch syndrome
(C;C)	0	common in clinvar
(C;T)	6	hereditary nonpolyposis colorectal cancer (HNPCC4)
(T;T)	5	hereditary nonpolyposis colorectal cancer (HNPCC4)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5986883

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750451
dbSNP (classic)	rs63750451
ClinGen	rs63750451
ebi	rs63750451
HLI	rs63750451
Exac	rs63750451
Gnomad	rs63750451
Varsome	rs63750451
LitVar	rs63750451
Map	rs63750451
PheGenI	rs63750451
Biobank	rs63750451
1000 genomes	rs63750451
hgdp	rs63750451
ensembl	rs63750451
geneview	rs63750451
scholar	rs63750451
google	rs63750451
pharmgkb	rs63750451
gwascentral	rs63750451
openSNP	rs63750451
23andMe	rs63750451
SNPshot	rs63750451
SNPdbe	rs63750451
MSV3d	rs63750451
GWAS Ctlg	rs63750451

Max Magnitude

6

rs63750451 is a SNP in the PMS2 gene on chromosome 7, associated with hereditary nonpolyposis colorectal cancer (HNPCC).[PMID 16472587]

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 600259.0009

OMIM	600259
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs63750451(T;T)
Alt	Rs63750451(T;T)
Reference	Rs63750451(C;C)
Significance	Pathogenic
Disease	Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6026514G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009823.5, RCV000076834.2, RCV000218575.1, RCV000220439.1,