rs587779330

Orientation

minus

Stabilized

minus

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

Make rs587779330(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

5987034

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs587779330
dbSNP (classic)	rs587779330
ClinGen	rs587779330
ebi	rs587779330
HLI	rs587779330
Exac	rs587779330
Gnomad	rs587779330
Varsome	rs587779330
LitVar	rs587779330
Map	rs587779330
PheGenI	rs587779330
Biobank	rs587779330
1000 genomes	rs587779330
hgdp	rs587779330
ensembl	rs587779330
geneview	rs587779330
scholar	rs587779330
google	rs587779330
pharmgkb	rs587779330
gwascentral	rs587779330
openSNP	rs587779330
23andMe	rs587779330
SNPshot	rs587779330
SNPdbe	rs587779330
MSV3d	rs587779330
GWAS Ctlg	rs587779330

Max Magnitude

6

ClinVar
Risk	rs587779330(A;A)
Alt	rs587779330(A;A)
Reference	Rs587779330(-;-)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome
Reversed	1
HGVS	NC_000007.13:g.6026666dupT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076822.2,