rs2228006

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(G;G)	0	common on affy axiom data

Make rs2228006(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

5987144

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs2228006
dbSNP (classic)	rs2228006
ClinGen	rs2228006
ebi	rs2228006
HLI	rs2228006
Exac	rs2228006
Gnomad	rs2228006
Varsome	rs2228006
LitVar	rs2228006
Map	rs2228006
PheGenI	rs2228006
Biobank	rs2228006
1000 genomes	rs2228006
hgdp	rs2228006
ensembl	rs2228006
geneview	rs2228006
scholar	rs2228006
google	rs2228006
pharmgkb	rs2228006
gwascentral	rs2228006
openSNP	rs2228006
23andMe	rs2228006
SNPshot	rs2228006
SNPdbe	rs2228006
MSV3d	rs2228006
GWAS Ctlg	rs2228006

GMAF

0.1208

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 18723338] Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.

ClinVar
Risk	Rs2228006(G;G)
Alt	Rs2228006(G;G)
Reference	Rs2228006(A;A)
Significance	Non-pathogenic
Disease	Lynch syndrome not provided not specified
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome not provided not specified
Reversed	1
HGVS	NC_000007.13:g.6026775T\x3d; NC_000007.13:g.6026775T>C
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000030365.3, RCV000034619.3, RCV000212862.1, RCV000121840.3,