rs63750490

Orientation

minus

Stabilized

minus

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

Make rs63750490(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5986925

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750490
dbSNP (classic)	rs63750490
ClinGen	rs63750490
ebi	rs63750490
HLI	rs63750490
Exac	rs63750490
Gnomad	rs63750490
Varsome	rs63750490
LitVar	rs63750490
Map	rs63750490
PheGenI	rs63750490
Biobank	rs63750490
1000 genomes	rs63750490
hgdp	rs63750490
ensembl	rs63750490
geneview	rs63750490
scholar	rs63750490
google	rs63750490
pharmgkb	rs63750490
gwascentral	rs63750490
openSNP	rs63750490
23andMe	rs63750490
SNPshot	rs63750490
SNPdbe	rs63750490
MSV3d	rs63750490
GWAS Ctlg	rs63750490

Max Magnitude

6

ClinVar
Risk	rs63750490(T;T)
Alt	rs63750490(T;T)
Reference	Rs63750490(A;A)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6026556T>A
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076831.2, RCV000164595.1, RCV000216236.2,