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rs522444

From SNPedia

Orientationplus
Stabilizedplus
Make rs522444(C;C)
Make rs522444(C;G)
Make rs522444(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position170074763
GeneKIFAP3
is asnp
is mentioned by
dbSNPrs522444
dbSNP (classic)rs522444
ClinGenrs522444
ebirs522444
HLIrs522444
Exacrs522444
Gnomadrs522444
Varsomers522444
LitVarrs522444
Maprs522444
PheGenIrs522444
Biobankrs522444
1000 genomesrs522444
hgdprs522444
ensemblrs522444
geneviewrs522444
scholarrs522444
googlers522444
pharmgkbrs522444
gwascentralrs522444
openSNPrs522444
23andMers522444
SNPshotrs522444
SNPdbers522444
MSV3drs522444
GWAS Ctlgrs522444
GMAF0.152
Max Magnitude0
? (C;C) (C;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

OMIM105400
Desc
Variant
Relatedalso