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rs587777204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777204(C;C)
Make rs587777204(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position80138200
GeneEIF4A3
is asnp
is mentioned by
dbSNPrs587777204
ebirs587777204
HLIrs587777204
Exacrs587777204
Varsomers587777204
Maprs587777204
PheGenIrs587777204
hapmaprs587777204
1000 genomesrs587777204
hgdprs587777204
ensemblrs587777204
gopubmedrs587777204
geneviewrs587777204
scholarrs587777204
googlers587777204
pharmgkbrs587777204
gwascentralrs587777204
openSNPrs587777204
23andMers587777204
23andMe allrs587777204
SNP Nexus

SNPshotrs587777204
SNPdbers587777204
MSV3drs587777204
GWAS Ctlgrs587777204
Max Magnitude0
ClinVar
Risk rs587777204(C;C)
Alt rs587777204(C;C)
Reference rs587777204(T;T)
Significance Pathogenic
Disease Richieri Costa Pereira syndrome
Variation info
Gene EIF4A3
CLNDBN Richieri Costa Pereira syndrome
Reversed 0
HGVS NC_000017.10:g.78111999T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087740.4,