rs63750049

Orientation

minus

Stabilized

minus

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

Make rs63750049(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5989923

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63750049
dbSNP (classic)	rs63750049
ClinGen	rs63750049
ebi	rs63750049
HLI	rs63750049
Exac	rs63750049
Gnomad	rs63750049
Varsome	rs63750049
LitVar	rs63750049
Map	rs63750049
PheGenI	rs63750049
Biobank	rs63750049
1000 genomes	rs63750049
hgdp	rs63750049
ensembl	rs63750049
geneview	rs63750049
scholar	rs63750049
google	rs63750049
pharmgkb	rs63750049
gwascentral	rs63750049
openSNP	rs63750049
23andMe	rs63750049
SNPshot	rs63750049
SNPdbe	rs63750049
MSV3d	rs63750049
GWAS Ctlg	rs63750049

Max Magnitude

6

ClinVar
Risk	rs63750049(-;-)
Alt	rs63750049(-;-)
Reference	Rs63750049(A;A)
Significance	Pathogenic
Disease	Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6029554delT
CLNSRC	OMIM Allelic Variant PMS2 @ LOVD
CLNACC	RCV000009821.4, RCV000076793.4, RCV000220282.1,