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rs878854359

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878854359(C;C)
Make rs878854359(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48523910
GeneEBP
is asnp
is mentioned by
dbSNPrs878854359
ebirs878854359
HLIrs878854359
Exacrs878854359
Varsomers878854359
Maprs878854359
PheGenIrs878854359
hapmaprs878854359
1000 genomesrs878854359
hgdprs878854359
ensemblrs878854359
gopubmedrs878854359
geneviewrs878854359
scholarrs878854359
googlers878854359
pharmgkbrs878854359
gwascentralrs878854359
openSNPrs878854359
23andMers878854359
23andMe allrs878854359
SNP Nexus

SNPshotrs878854359
SNPdbers878854359
MSV3drs878854359
GWAS Ctlgrs878854359
Max Magnitude0
ClinVar
Risk rs878854359(C;C)
Alt rs878854359(C;C)
Reference rs878854359(T;T)
Significance Pathogenic
Disease MEND syndrome
Variation info
Gene EBP
CLNDBN MEND syndrome
Reversed 0
HGVS NC_000023.10:g.48382298T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190983.2,