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rs16984852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs16984852(G;T)
Make rs16984852(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position23049655
GeneTHBD
is asnp
is mentioned by
dbSNPrs16984852
ebirs16984852
HLIrs16984852
Exacrs16984852
Varsomers16984852
Maprs16984852
PheGenIrs16984852
hapmaprs16984852
1000 genomesrs16984852
hgdprs16984852
ensemblrs16984852
gopubmedrs16984852
geneviewrs16984852
scholarrs16984852
googlers16984852
pharmgkbrs16984852
gwascentralrs16984852
openSNPrs16984852
23andMers16984852
23andMe allrs16984852
SNP Nexus

SNPshotrs16984852
SNPdbers16984852
MSV3drs16984852
GWAS Ctlgrs16984852
Max Magnitude0
ClinVar
Risk rs16984852(T;T)
Alt rs16984852(T;T)
Reference rs16984852(G;G)
Significance Pathogenic
Disease Thrombophilia due to thrombomodulin defect
Variation info
Gene THBD
CLNDBN Thrombophilia due to thrombomodulin defect
Reversed 1
HGVS NC_000020.10:g.23030292C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128419.2,