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rs644827

From SNPedia

Orientationplus
Stabilizedplus
Make rs644827(C;C)
Make rs644827(C;T)
Make rs644827(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31870664
GeneSLC44A4
is asnp
is mentioned by
dbSNPrs644827
ebirs644827
HLIrs644827
Exacrs644827
Varsomers644827
Maprs644827
PheGenIrs644827
hapmaprs644827
1000 genomesrs644827
hgdprs644827
ensemblrs644827
gopubmedrs644827
geneviewrs644827
scholarrs644827
googlers644827
pharmgkbrs644827
gwascentralrs644827
openSNPrs644827
23andMers644827
23andMe allrs644827
SNP Nexus

SNPshotrs644827
SNPdbers644827
MSV3drs644827
GWAS Ctlgrs644827
GMAF0.3893
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SLC44A4
allele C
frequency 0.467
sift TOLERATED
HuRef 1103652827423
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.



Neighborrs2242665
Distance868


GET Evidence
SLC44A4-M326V
aa_change Met326Val
aa_change_short M326V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.60016
summary