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rs2242665

From SNPedia

Orientationminus
Stabilizedminus
Make rs2242665(A;A)
Make rs2242665(A;G)
Make rs2242665(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31871532
GeneSLC44A4
is asnp
is mentioned by
dbSNPrs2242665
ebirs2242665
HLIrs2242665
Exacrs2242665
Varsomers2242665
Maprs2242665
PheGenIrs2242665
hapmaprs2242665
1000 genomesrs2242665
hgdprs2242665
ensemblrs2242665
gopubmedrs2242665
geneviewrs2242665
scholarrs2242665
googlers2242665
pharmgkbrs2242665
gwascentralrs2242665
openSNPrs2242665
23andMers2242665
23andMe allrs2242665
SNP Nexus

SNPshotrs2242665
SNPdbers2242665
MSV3drs2242665
GWAS Ctlgrs2242665
GMAF0.3898
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SLC44A4
allele T
frequency 0.467
sift TOLERATED
HuRef 1103652827427
Disease Association A chromosomal aberration involving CTL4 is a cause of sialidosis, a lysosomal storage disease (MIM:256550). A rearrangement with NEU1 generates the CTL4-NEU1 transcript by fusing CTL4 to the 3'end of NEU1.



Neighborrs644827
Distance868
[PMID 22615793OA-icon.png] Investigation of Host Candidate Malaria-Associated Risk/Protective SNPs in a Brazilian Amazonian Population


GET Evidence
SLC44A4-V187I
aa_change Val187Ile
aa_change_short V187I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.591746
summary