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rs1541160

From SNPedia

Orientationminus
Stabilizedminus
Make rs1541160(A;A)
Make rs1541160(A;G)
Make rs1541160(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position170026661
GeneKIFAP3
is asnp
is mentioned by
dbSNPrs1541160
ebirs1541160
HLIrs1541160
Exacrs1541160
Varsomers1541160
Maprs1541160
PheGenIrs1541160
hapmaprs1541160
1000 genomesrs1541160
hgdprs1541160
ensemblrs1541160
gopubmedrs1541160
geneviewrs1541160
scholarrs1541160
googlers1541160
pharmgkbrs1541160
gwascentralrs1541160
openSNPrs1541160
23andMers1541160
23andMe allrs1541160
SNP Nexus

SNPshotrs1541160
SNPdbers1541160
MSV3drs1541160
GWAS Ctlgrs1541160
GMAF0.1534
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 19451621OA-icon.png] homozygosity for the favorable allele (CC) associated with a 14 month survival advantage in ALS patients. further analysis (sequence, genotypic, and functional) showed LD between rs1541160 and rs522444 and that favorable alleles correlate with reduced KIFAP3 expression.

However, a later study attempting to replicate these findings in a population-based cohort of 500 Italian ALS patients could not find any effect on either survival or gene expression based on any SNPs (including rs1541160) from the KIFAP3 locus.[PMID 20566859OA-icon.png]

OMIM105400
Desc
Variant
Relatedalso


[PMID 21659726] Genetic Variation in KIFAP3 Is Associated with an Upper Motor Neuron-Predominant Phenotype in Amyotrophic Lateral Sclerosis


GET Evidence
rs1541160
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.828125
summary



[PMID 22795786] No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population