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rs17608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0
Make rs17608(C;C)
Make rs17608(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position39735006
GeneCLC
is asnp
is mentioned by
dbSNPrs17608
ebirs17608
HLIrs17608
Exacrs17608
Varsomers17608
Maprs17608
PheGenIrs17608
hapmaprs17608
1000 genomesrs17608
hgdprs17608
ensemblrs17608
gopubmedrs17608
geneviewrs17608
scholarrs17608
googlers17608
pharmgkbrs17608
gwascentralrs17608
openSNPrs17608
23andMers17608
23andMe allrs17608
SNP Nexus

SNPshotrs17608
SNPdbers17608
MSV3drs17608
GWAS Ctlgrs17608
GMAF0.4063
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene CLC
allele A
frequency 0.292
sift TOLERATED
HuRef 1103691144485
Disease Association Forms hexagonal bipyramidal crystals, known as Charcot- Leyden crystals, in tissues and secretions from sites of eosinophil-associated inflammation and some myeloid leukemias.



[PMID 16015083] Altered expression of CLC, DSG3, EMP3, S100A2, and SLPI in corneal epithelium from keratoconus patients.


GET Evidence
CLC-A28V
aa_change Ala28Val
aa_change_short A28V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.699944
summary