Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800576(A;A)
Make rs1800576(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position23049378
GeneTHBD
is asnp
is mentioned by
dbSNPrs1800576
ebirs1800576
HLIrs1800576
Exacrs1800576
Varsomers1800576
Maprs1800576
PheGenIrs1800576
hapmaprs1800576
1000 genomesrs1800576
hgdprs1800576
ensemblrs1800576
gopubmedrs1800576
geneviewrs1800576
scholarrs1800576
googlers1800576
pharmgkbrs1800576
gwascentralrs1800576
openSNPrs1800576
23andMers1800576
23andMe allrs1800576
SNP Nexus

SNPshotrs1800576
SNPdbers1800576
MSV3drs1800576
GWAS Ctlgrs1800576
Merged fromRs28933404
GMAF0.005969
Max Magnitude0
OMIM188040
Desc
Variant0005
Relatedalso


ClinVar
Risk rs1800576(A;A)
Alt rs1800576(A;A)
Reference rs1800576(G;G)
Significance Other
Disease Atypical hemolytic-uremic syndrome 6
Variation info
Gene THBD
CLNDBN Atypical hemolytic-uremic syndrome 6
Reversed 1
HGVS NC_000020.10:g.23030015C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013555.2,



[PMID 17677000OA-icon.png] Combined effects of thrombosis pathway gene variants predict cardiovascular events.


GET Evidence
THBD-A43T
aa_change Ala43Thr
aa_change_short A43T
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00383583
summary Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.