Rs104894799

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894799(C;T)
Make rs104894799(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48523958
GeneEBP
is asnp
is mentioned by
dbSNPrs104894799
Exacrs104894799
PheGenIrs104894799
nextbiors104894799
hapmaprs104894799
1000 genomesrs104894799
hgdprs104894799
ensemblrs104894799
gopubmedrs104894799
geneviewrs104894799
scholarrs104894799
googlers104894799
pharmgkbrs104894799
gwascentralrs104894799
openSNPrs104894799
23andMers104894799
23andMe allrs104894799
SNP Nexus

SNPshotrs104894799
SNPdbers104894799
MSV3drs104894799
Max Magnitude0
OMIM300205
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894799(T;T)
Alt rs104894799(T;T)
Reference rs104894799(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.48382346C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012239.10,