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rs35332062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs35332062(A;A)
Make rs35332062(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position73597712
GeneLOC100289339, MLXIPL
is asnp
is mentioned by
dbSNPrs35332062
ebirs35332062
HLIrs35332062
Exacrs35332062
Varsomers35332062
Maprs35332062
PheGenIrs35332062
hapmaprs35332062
1000 genomesrs35332062
hgdprs35332062
ensemblrs35332062
gopubmedrs35332062
geneviewrs35332062
scholarrs35332062
googlers35332062
pharmgkbrs35332062
gwascentralrs35332062
openSNPrs35332062
23andMers35332062
23andMe allrs35332062
SNP Nexus

SNPshotrs35332062
SNPdbers35332062
MSV3drs35332062
GWAS Ctlgrs35332062
GMAF0.09642
Max Magnitude0
Venter snp
Source plos
Gene MLXIPL
allele A
frequency
sift
HuRef 1103652612577
Disease Association Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) (MIM:194050). WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.



GET Evidence
MLXIPL-A358V
aa_change Ala358Val
aa_change_short A358V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0860716
summary



[PMID 24989072] Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels