rs587779340

Orientation

minus

Stabilized

minus

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

Make rs587779340(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

6003794

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs587779340
dbSNP (classic)	rs587779340
ClinGen	rs587779340
ebi	rs587779340
HLI	rs587779340
Exac	rs587779340
Gnomad	rs587779340
Varsome	rs587779340
LitVar	rs587779340
Map	rs587779340
PheGenI	rs587779340
Biobank	rs587779340
1000 genomes	rs587779340
hgdp	rs587779340
ensembl	rs587779340
geneview	rs587779340
scholar	rs587779340
google	rs587779340
pharmgkb	rs587779340
gwascentral	rs587779340
openSNP	rs587779340
23andMe	rs587779340
SNPshot	rs587779340
SNPdbe	rs587779340
MSV3d	rs587779340
GWAS Ctlg	rs587779340

Max Magnitude

6

ClinVar
Risk	rs587779340(C;C) rs587779340(G;G) rs587779340(T;T)
Alt	rs587779340(C;C) rs587779340(G;G) rs587779340(T;T)
Reference	Rs587779340(A;A)
Significance	Other
Disease	Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Hereditary cancer-predisposing syndrome Lynch syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6043425T>A; NC_000007.13:g.6043425T>C; NC_000007.13:g.6043425T>G
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000162757.1, RCV000205731.4, RCV000216802.1, RCV000076861.2, RCV000219075.1,