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rs104894800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894800(A;A)
Make rs104894800(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48524009
GeneEBP
is asnp
is mentioned by
dbSNPrs104894800
ebirs104894800
HLIrs104894800
Exacrs104894800
Varsomers104894800
Maprs104894800
PheGenIrs104894800
hapmaprs104894800
1000 genomesrs104894800
hgdprs104894800
ensemblrs104894800
gopubmedrs104894800
geneviewrs104894800
scholarrs104894800
googlers104894800
pharmgkbrs104894800
gwascentralrs104894800
openSNPrs104894800
23andMers104894800
23andMe allrs104894800
SNP Nexus

SNPshotrs104894800
SNPdbers104894800
MSV3drs104894800
GWAS Ctlgrs104894800
Merged fromRs28936073
Max Magnitude0
OMIM300205
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894800(A;A)
Alt rs104894800(A;A)
Reference rs104894800(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.48382397G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012240.26,