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rs1800956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1800956(C;G)
Make rs1800956(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127824342
GeneENG
is asnp
is mentioned by
dbSNPrs1800956
ebirs1800956
HLIrs1800956
Exacrs1800956
Varsomers1800956
Maprs1800956
PheGenIrs1800956
hapmaprs1800956
1000 genomesrs1800956
hgdprs1800956
ensemblrs1800956
gopubmedrs1800956
geneviewrs1800956
scholarrs1800956
googlers1800956
pharmgkbrs1800956
gwascentralrs1800956
openSNPrs1800956
23andMers1800956
23andMe allrs1800956
SNP Nexus

SNPshotrs1800956
SNPdbers1800956
MSV3drs1800956
GWAS Ctlgrs1800956
GMAF0.02893
Max Magnitude0
[PMID 18440621] rs1800956 (G/C transversion with D366H substitution) of endoglin may play an important role in the pathogenesis of intracranial aneurysms in the Korean population.

[PMID 19299629OA-icon.png] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.


GET Evidence
ENG-D366H
aa_change Asp366His
aa_change_short D366H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00102249
summary



ClinVar
Risk rs1800956(G,T;G,T)
Alt rs1800956(G,T;G,T)
Reference rs1800956(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ENG
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.130586621C>G
CLNSRC
CLNACC RCV000150650.2,