Rs104894798

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894798(A;A)
Make rs104894798(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48523858
GeneEBP
is asnp
is mentioned by
dbSNPrs104894798
PheGenIrs104894798
nextbiors104894798
hapmaprs104894798
1000 genomesrs104894798
hgdprs104894798
ensemblrs104894798
gopubmedrs104894798
geneviewrs104894798
scholarrs104894798
googlers104894798
pharmgkbrs104894798
gwascentralrs104894798
openSNPrs104894798
23andMers104894798
23andMe allrs104894798
SNP Nexus

SNPshotrs104894798
SNPdbers104894798
MSV3drs104894798
Max Magnitude0
OMIM300205
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894798(A;A)
Alt rs104894798(A;A)
Reference rs104894798(G;G)
Significance Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant
Reversed 0
HGVS NC_000023.10:g.48382246G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012238.21,