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rs6720173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6720173(C;C)
Make rs6720173(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43813262
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs6720173
dbSNP (old)rs6720173
ClinGenrs6720173
ebirs6720173
HLIrs6720173
Exacrs6720173
Varsomers6720173
Maprs6720173
PheGenIrs6720173
Biobankrs6720173
1000 genomesrs6720173
hgdprs6720173
ensemblrs6720173
gopubmedrs6720173
geneviewrs6720173
scholarrs6720173
googlers6720173
pharmgkbrs6720173
gwascentralrs6720173
openSNPrs6720173
23andMers6720173
23andMe allrs6720173
SNP Nexus

SNPshotrs6720173
SNPdbers6720173
MSV3drs6720173
GWAS Ctlgrs6720173
GMAF0.2112
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 22655090OA-icon.png] ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels


GET Evidence
ABCG5-Q604E
aa_change Gln604Glu
aa_change_short Q604E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.214259
summary



[PMID 15996216OA-icon.png] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.


[PMID 16507104OA-icon.png] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.


[PMID 19005228OA-icon.png] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.


[PMID 25920552OA-icon.png] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array


ClinVar
Risk rs6720173(C;C)
Alt rs6720173(C;C)
Reference Rs6720173(G;G)
Significance Non-pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44040401G>C
CLNSRC
CLNACC RCV000318037.1,