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Rs104894794

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894794(A;A)
Make rs104894794(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48528351
GeneEBP
is asnp
is mentioned by
dbSNPrs104894794
PheGenIrs104894794
nextbiors104894794
hapmaprs104894794
1000 genomesrs104894794
hgdprs104894794
ensemblrs104894794
gopubmedrs104894794
geneviewrs104894794
scholarrs104894794
googlers104894794
pharmgkbrs104894794
gwascentralrs104894794
openSNPrs104894794
23andMers104894794
23andMe allrs104894794
SNP Nexus

SNPshotrs104894794
SNPdbers104894794
MSV3drs104894794
Max Magnitude0
OMIM300205
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894794(A;A)
Alt rs104894794(A;A)
Reference rs104894794(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.48386739G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012246.23,