rs1042580

minus

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

Make rs1042580(A;G)

Make rs1042580(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

23046984

Gene

THBD

is a	snp
is	mentioned by
dbSNP	rs1042580
dbSNP (classic)	rs1042580
ClinGen	rs1042580
ebi	rs1042580
HLI	rs1042580
Exac	rs1042580
Gnomad	rs1042580
Varsome	rs1042580
LitVar	rs1042580
Map	rs1042580
PheGenI	rs1042580
Biobank	rs1042580
1000 genomes	rs1042580
hgdp	rs1042580
ensembl	rs1042580
geneview	rs1042580
scholar	rs1042580
google	rs1042580
pharmgkb	rs1042580
gwascentral	rs1042580
openSNP	rs1042580
23andMe	rs1042580
SNPshot	rs1042580
SNPdbe	rs1042580
MSV3d	rs1042580
GWAS Ctlg	rs1042580

GMAF

0.2801

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

linked to Cardiovascular Events

Several CVD risk variants were identified: In women, the combination of F5 rs7542281 Ã— THBD rs1042580, together with three single F5 SNPs, was associated with CVD events. Among men, PROC rs1041296, when combined with either ICAM1 rs5030341 or F5 rs2269648, was associated with total mortality. As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events.[PMID 17677000 ]

[PMID 24602049] Association of gene polymorphisms with the risk of warfarin bleeding complications at therapeutic INR in patients with mechanical cardiac valves

[PMID 25225421] Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease

[PMID 24816905 ] Single nucleotide variants in the protein C pathway and mortality in dialysis patients

ClinVar
Risk	rs1042580(G;G)
Alt	rs1042580(G;G)
Reference	Rs1042580(A;A)
Significance	Non-pathogenic
Disease	Atypical hemolytic uremic syndrome
Variation	info
Gene	THBD
CLNDBN	Atypical hemolytic uremic syndrome
Reversed	1
HGVS	NC_000020.10:g.23027621T>C
CLNSRC
CLNACC	RCV000332586.1,