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rs17567

From SNPedia

Orientationplus
Stabilizedplus
Make rs17567(C;C)
Make rs17567(C;T)
Make rs17567(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position51361249
GeneEPS15
is asnp
is mentioned by
dbSNPrs17567
ebirs17567
HLIrs17567
Exacrs17567
Varsomers17567
Maprs17567
PheGenIrs17567
hapmaprs17567
1000 genomesrs17567
hgdprs17567
ensemblrs17567
gopubmedrs17567
geneviewrs17567
scholarrs17567
googlers17567
pharmgkbrs17567
gwascentralrs17567
openSNPrs17567
23andMers17567
23andMe allrs17567
SNP Nexus

SNPshotrs17567
SNPdbers17567
MSV3drs17567
GWAS Ctlgrs17567
GMAF0.2346
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene EPS15
allele C
frequency 0.208
sift TOLERATED
HuRef 1103675091307
Disease Association A chromosomal aberration involving EPS15 is found in acute leukemias. Translocation t(1;11)(p32;q23) with MLL/HRX. The result is a rogue activator protein.



[PMID 15986317OA-icon.png] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.


[PMID 19633731OA-icon.png] Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China.


GET Evidence
EPS15-I822M
aa_change Ile822Met
aa_change_short I822M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.328314
summary