rs267608154

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;ACAG)	6	Lynch syndrome, pathogenic mutation
(-;ACAGACAG)	6	Lynch syndrome, pathogenic mutation
(ACAG;ACAG)	0	common in clinvar
(ACAGACAG;ACAGACAG)	0	common/normal

Make rs267608154(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5995573

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs267608154
dbSNP (classic)	rs267608154
ClinGen	rs267608154
ebi	rs267608154
HLI	rs267608154
Exac	rs267608154
Gnomad	rs267608154
Varsome	rs267608154
LitVar	rs267608154
Map	rs267608154
PheGenI	rs267608154
Biobank	rs267608154
1000 genomes	rs267608154
hgdp	rs267608154
ensembl	rs267608154
geneview	rs267608154
scholar	rs267608154
google	rs267608154
pharmgkb	rs267608154
gwascentral	rs267608154
openSNP	rs267608154
23andMe	rs267608154
SNPshot	rs267608154
SNPdbe	rs267608154
MSV3d	rs267608154
GWAS Ctlg	rs267608154

Max Magnitude

6

aka c.853_856delACAG and also c.853_856delACAGACAG; both are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk	rs267608154(-;-)
Alt	rs267608154(-;-)
Reference	Rs267608154(ACAG;ACAG)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6035204_6035207delCTGT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076894.2, RCV000216774.1, RCV000414373.1,