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rs62542743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62542743(A;A)
Make rs62542743(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position33385243
GeneAQP7
is asnp
is mentioned by
dbSNPrs62542743
ebirs62542743
HLIrs62542743
Exacrs62542743
Varsomers62542743
Maprs62542743
PheGenIrs62542743
hapmaprs62542743
1000 genomesrs62542743
hgdprs62542743
ensemblrs62542743
gopubmedrs62542743
geneviewrs62542743
scholarrs62542743
googlers62542743
pharmgkbrs62542743
gwascentralrs62542743
openSNPrs62542743
23andMers62542743
23andMe allrs62542743
SNP Nexus

SNPshotrs62542743
SNPdbers62542743
MSV3drs62542743
GWAS Ctlgrs62542743
GMAF0.02571
Max Magnitude0
OMIM602914
Desc
Variant0001
Relatedalso


ClinVar
Risk rs62542743(A;A)
Alt rs62542743(A;A)
Reference rs62542743(C;C)
Significance Other
Disease Glycerol release during exercise
Variation info
Gene AQP7
CLNDBN Glycerol release during exercise, defective
Reversed 0
HGVS NC_000009.11:g.33385241C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023224.3,



GET Evidence
AQP7-G264V
aa_change Gly264Val
aa_change_short G264V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0369028
summary