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rs600753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs600753(C;C)
Make rs600753(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position55466995
GeneDYX1C1, DYX1C1-CCPG1
is asnp
is mentioned by
dbSNPrs600753
ebirs600753
HLIrs600753
Exacrs600753
Varsomers600753
Maprs600753
PheGenIrs600753
hapmaprs600753
1000 genomesrs600753
hgdprs600753
ensemblrs600753
gopubmedrs600753
geneviewrs600753
scholarrs600753
googlers600753
pharmgkbrs600753
gwascentralrs600753
openSNPrs600753
23andMers600753
23andMe allrs600753
SNP Nexus

SNPshotrs600753
SNPdbers600753
MSV3drs600753
GWAS Ctlgrs600753
GMAF0.4697
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene CCPG1
allele C
frequency 0.608
sift TOLERATED
HuRef 1103645618108
Disease Association A chromosomal aberration involving DYX1C1 may be a cause of dyslexia (MIM:127700). Translocation t(2;15)(q11;q21).



[PMID 18288507OA-icon.png] Structural genomic variation in ischemic stroke.


[PMID 19240663] Further evidence for DYX1C1 as a susceptibility factor for dyslexia.


GET Evidence
DYX1C1-E191G
aa_change Glu191Gly
aa_change_short E191G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.45141
summary