rs5742933

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs5742933(C;C)

Make rs5742933(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189784590

Gene	ORMDL1, PMS1

is a	snp
is	mentioned by
dbSNP	rs5742933
dbSNP (classic)	rs5742933
ClinGen	rs5742933
ebi	rs5742933
HLI	rs5742933
Exac	rs5742933
Gnomad	rs5742933
Varsome	rs5742933
LitVar	rs5742933
Map	rs5742933
PheGenI	rs5742933
Biobank	rs5742933
1000 genomes	rs5742933
hgdp	rs5742933
ensembl	rs5742933
geneview	rs5742933
scholar	rs5742933
google	rs5742933
pharmgkb	rs5742933
gwascentral	rs5742933
openSNP	rs5742933
23andMe	rs5742933
SNPshot	rs5742933
SNPdbe	rs5742933
MSV3d	rs5742933
GWAS Ctlg	rs5742933

GMAF

0.2346

Max Magnitude

0

?

(C;C) (C;G) (G;G)

28

[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis

[PMID 19389263 ] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

[PMID 19781088 ] Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

[PMID 25162662 ] Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population

[PMID 26027715] Correlation between polymorphisms in DNA mismatch repair genes and the risk of primary hepatocellular carcinoma for the Han population in northern China

ClinVar
Risk	rs5742933(C;C)
Alt	rs5742933(C;C)
Reference	Rs5742933(G;G)
Significance	Probable-non-pathogenic
Disease	Lynch syndrome
Variation	info
Gene	PMS1 ORMDL1
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.190649316G>C
CLNSRC
CLNACC	RCV000268596.1,

[PMID 29616133 ] Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.