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rs878854358

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854358(A;A)
Make rs878854358(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48523804
GeneEBP
is asnp
is mentioned by
dbSNPrs878854358
ebirs878854358
HLIrs878854358
Exacrs878854358
Varsomers878854358
Maprs878854358
PheGenIrs878854358
hapmaprs878854358
1000 genomesrs878854358
hgdprs878854358
ensemblrs878854358
gopubmedrs878854358
geneviewrs878854358
scholarrs878854358
googlers878854358
pharmgkbrs878854358
gwascentralrs878854358
openSNPrs878854358
23andMers878854358
23andMe allrs878854358
SNP Nexus

SNPshotrs878854358
SNPdbers878854358
MSV3drs878854358
GWAS Ctlgrs878854358
Max Magnitude0
ClinVar
Risk rs878854358(A;A)
Alt rs878854358(A;A)
Reference rs878854358(C;C)
Significance Pathogenic
Disease Chondrodysplasia punctata 2
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2, X-linked dominant, atypical
Reversed 0
HGVS NC_000023.10:g.48382192C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190981.2,