rs587779347

Orientation

minus

Stabilized

minus

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

Make rs587779347(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5989957

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs587779347
dbSNP (classic)	rs587779347
ClinGen	rs587779347
ebi	rs587779347
HLI	rs587779347
Exac	rs587779347
Gnomad	rs587779347
Varsome	rs587779347
LitVar	rs587779347
Map	rs587779347
PheGenI	rs587779347
Biobank	rs587779347
1000 genomes	rs587779347
hgdp	rs587779347
ensembl	rs587779347
geneview	rs587779347
scholar	rs587779347
google	rs587779347
pharmgkb	rs587779347
gwascentral	rs587779347
openSNP	rs587779347
23andMe	rs587779347
SNPshot	rs587779347
SNPdbe	rs587779347
MSV3d	rs587779347
GWAS Ctlg	rs587779347

Max Magnitude

6

ClinVar
Risk	rs587779347(G;G)
Alt	rs587779347(G;G)
Reference	Rs587779347(A;A)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000007.13:g.6029588T>C
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076905.2, RCV000132347.2,