rs63750106

Orientation

minus

Stabilized

minus

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

Make rs63750106(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5987458

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750106
dbSNP (classic)	rs63750106
ClinGen	rs63750106
ebi	rs63750106
HLI	rs63750106
Exac	rs63750106
Gnomad	rs63750106
Varsome	rs63750106
LitVar	rs63750106
Map	rs63750106
PheGenI	rs63750106
Biobank	rs63750106
1000 genomes	rs63750106
hgdp	rs63750106
ensembl	rs63750106
geneview	rs63750106
scholar	rs63750106
google	rs63750106
pharmgkb	rs63750106
gwascentral	rs63750106
openSNP	rs63750106
23andMe	rs63750106
SNPshot	rs63750106
SNPdbe	rs63750106
MSV3d	rs63750106
GWAS Ctlg	rs63750106

Max Magnitude

6

ClinVar
Risk	rs63750106(A;A)
Alt	rs63750106(A;A)
Reference	Rs63750106(-;-)
Significance	Pathogenic
Disease	Turcot syndrome Lynch syndrome
Variation	info
Gene	PMS2
CLNDBN	Turcot syndrome Lynch syndrome
Reversed	1
HGVS	NC_000007.13:g.6027090dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029204.4, RCV000076805.2,