Rs104894793

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894793(C;T)
Make rs104894793(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48528287
GeneEBP
is asnp
is mentioned by
dbSNPrs104894793
Exacrs104894793
PheGenIrs104894793
nextbiors104894793
hapmaprs104894793
1000 genomesrs104894793
hgdprs104894793
ensemblrs104894793
gopubmedrs104894793
geneviewrs104894793
scholarrs104894793
googlers104894793
pharmgkbrs104894793
gwascentralrs104894793
openSNPrs104894793
23andMers104894793
23andMe allrs104894793
SNP Nexus

SNPshotrs104894793
SNPdbers104894793
MSV3drs104894793
Max Magnitude0
OMIM300205
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894793(T;T)
Alt rs104894793(T;T)
Reference rs104894793(C;C)
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.48386675C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012245.23,