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rs41348347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41348347(G;T)
Make rs41348347(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position23048049
GeneTHBD
is asnp
is mentioned by
dbSNPrs41348347
ebirs41348347
HLIrs41348347
Exacrs41348347
Varsomers41348347
Maprs41348347
PheGenIrs41348347
hapmaprs41348347
1000 genomesrs41348347
hgdprs41348347
ensemblrs41348347
gopubmedrs41348347
geneviewrs41348347
scholarrs41348347
googlers41348347
pharmgkbrs41348347
gwascentralrs41348347
openSNPrs41348347
23andMers41348347
23andMe allrs41348347
SNP Nexus

SNPshotrs41348347
SNPdbers41348347
MSV3drs41348347
GWAS Ctlgrs41348347
GMAF0.009642
Max Magnitude0
OMIM188040
Desc
Variant0001
Relatedalso


ClinVar
Risk rs41348347(T;T)
Alt rs41348347(T;T)
Reference rs41348347(G;G)
Significance Unknown
Disease Thrombophilia due to thrombomodulin defect
Variation info
Gene THBD
CLNDBN Thrombophilia due to thrombomodulin defect
Reversed 1
HGVS NC_000020.10:g.23028686C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013551.4,