rs63750250

Orientation

minus

Stabilized

minus

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

Make rs63750250(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5986933

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750250
dbSNP (classic)	rs63750250
ClinGen	rs63750250
ebi	rs63750250
HLI	rs63750250
Exac	rs63750250
Gnomad	rs63750250
Varsome	rs63750250
LitVar	rs63750250
Map	rs63750250
PheGenI	rs63750250
Biobank	rs63750250
1000 genomes	rs63750250
hgdp	rs63750250
ensembl	rs63750250
geneview	rs63750250
scholar	rs63750250
google	rs63750250
pharmgkb	rs63750250
gwascentral	rs63750250
openSNP	rs63750250
23andMe	rs63750250
SNPshot	rs63750250
SNPdbe	rs63750250
MSV3d	rs63750250
GWAS Ctlg	rs63750250

Max Magnitude

6

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560]

ClinVar
Risk	rs63750250(A;A)
Alt	rs63750250(A;A)
Reference	Rs63750250(-;-)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome I not provided
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome I not provided
Reversed	1
HGVS	NC_000007.13:g.6026565dupT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076830.3, RCV000115666.4, RCV000121837.1, RCV000144653.1, RCV000258972.2,