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rs2494876

From SNPedia

Orientationplus
Stabilizedplus
Make rs2494876(C;C)
Make rs2494876(C;T)
Make rs2494876(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position50200843
GeneELAVL4
is asnp
is mentioned by
dbSNPrs2494876
ebirs2494876
HLIrs2494876
Exacrs2494876
Varsomers2494876
Maprs2494876
PheGenIrs2494876
hapmaprs2494876
1000 genomesrs2494876
hgdprs2494876
ensemblrs2494876
gopubmedrs2494876
geneviewrs2494876
scholarrs2494876
googlers2494876
pharmgkbrs2494876
gwascentralrs2494876
openSNPrs2494876
23andMers2494876
23andMe allrs2494876
SNP Nexus

SNPshotrs2494876
SNPdbers2494876
MSV3drs2494876
GWAS Ctlgrs2494876
GMAF0.2879
Max Magnitude
Venter snp
Source plos
Gene ELAVL4
allele T
frequency
sift TOLERATED
HuRef 1103675090097
Disease Association Paraneoplastic encephalomyelitis sensory neuropathy is associated with small cell lung cancer and is characterized by dementia, sensory loss, and other neurological disabilities. It may result from an immune response primarily directed against a small cell lung tumor antigen which is misdirected against similar antigens expressed in brain.



OMIM606852
DescPARKINSON DISEASE 10; PARK10
Variant
Relatedalso
[PMID 15986317OA-icon.png] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.


GET Evidence
ELAVL4-P270S
aa_change Pro270Ser
aa_change_short P270S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.753207
summary