rs63750793

Orientation

minus

Stabilized

minus

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

Make rs63750793(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

6004040

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750793
dbSNP (classic)	rs63750793
ClinGen	rs63750793
ebi	rs63750793
HLI	rs63750793
Exac	rs63750793
Gnomad	rs63750793
Varsome	rs63750793
LitVar	rs63750793
Map	rs63750793
PheGenI	rs63750793
Biobank	rs63750793
1000 genomes	rs63750793
hgdp	rs63750793
ensembl	rs63750793
geneview	rs63750793
scholar	rs63750793
google	rs63750793
pharmgkb	rs63750793
gwascentral	rs63750793
openSNP	rs63750793
23andMe	rs63750793
SNPshot	rs63750793
SNPdbe	rs63750793
MSV3d	rs63750793
GWAS Ctlg	rs63750793

Max Magnitude

6

ClinVar
Risk	rs63750793(-;-)
Alt	rs63750793(-;-)
Reference	Rs63750793(A;A)
Significance	Pathogenic
Disease	Turcot syndrome Lynch syndrome
Variation	info
Gene	PMS2
CLNDBN	Turcot syndrome Lynch syndrome
Reversed	1
HGVS	NC_000007.13:g.6043671delT
CLNSRC	OMIM Allelic Variant PMS2 @ LOVD
CLNACC	RCV000009828.5, RCV000076829.2,