rs587779324

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 rs587779324(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

6004060

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs587779324
dbSNP (classic)	rs587779324
ClinGen	rs587779324
ebi	rs587779324
HLI	rs587779324
Exac	rs587779324
Gnomad	rs587779324
Varsome	rs587779324
LitVar	rs587779324
Map	rs587779324
PheGenI	rs587779324
Biobank	rs587779324
1000 genomes	rs587779324
hgdp	rs587779324
ensembl	rs587779324
geneview	rs587779324
scholar	rs587779324
google	rs587779324
pharmgkb	rs587779324
gwascentral	rs587779324
openSNP	rs587779324
23andMe	rs587779324
SNPshot	rs587779324
SNPdbe	rs587779324
MSV3d	rs587779324
GWAS Ctlg	rs587779324

Max Magnitude

6

ClinVar
Risk	rs587779324(G;G)
Alt	rs587779324(G;G)
Reference	Rs587779324(A;A)
Significance	Probable-Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome
Reversed	1
HGVS	NC_000007.13:g.6043691T>C
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076818.2,