rs587779343

Orientation

minus

Stabilized

minus

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

Make rs587779343(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5999116

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs587779343
dbSNP (classic)	rs587779343
ClinGen	rs587779343
ebi	rs587779343
HLI	rs587779343
Exac	rs587779343
Gnomad	rs587779343
Varsome	rs587779343
LitVar	rs587779343
Map	rs587779343
PheGenI	rs587779343
Biobank	rs587779343
1000 genomes	rs587779343
hgdp	rs587779343
ensembl	rs587779343
geneview	rs587779343
scholar	rs587779343
google	rs587779343
pharmgkb	rs587779343
gwascentral	rs587779343
openSNP	rs587779343
23andMe	rs587779343
SNPshot	rs587779343
SNPdbe	rs587779343
MSV3d	rs587779343
GWAS Ctlg	rs587779343

Max Magnitude

6

ClinVar
Risk	rs587779343(G;G) rs587779343(T;T)
Alt	rs587779343(G;G) rs587779343(T;T)
Reference	Rs587779343(C;C)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome not provided not specified Hereditary nonpolyposis colorectal cancer type 4
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome not provided not specified Hereditary nonpolyposis colorectal cancer type 4
Reversed	1
HGVS	NC_000007.13:g.6038747G>A; NC_000007.13:g.6038747G>C
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076881.2, RCV000115701.4, RCV000212848.1, RCV000160884.3, RCV000212849.1, RCV000412005.1,