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rs104894792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894792(A;A)
Make rs104894792(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48527202
GeneEBP
is asnp
is mentioned by
dbSNPrs104894792
ebirs104894792
HLIrs104894792
Exacrs104894792
Varsomers104894792
Maprs104894792
PheGenIrs104894792
hapmaprs104894792
1000 genomesrs104894792
hgdprs104894792
ensemblrs104894792
gopubmedrs104894792
geneviewrs104894792
scholarrs104894792
googlers104894792
pharmgkbrs104894792
gwascentralrs104894792
openSNPrs104894792
23andMers104894792
23andMe allrs104894792
SNP Nexus

SNPshotrs104894792
SNPdbers104894792
MSV3drs104894792
GWAS Ctlgrs104894792
Max Magnitude0
OMIM300205
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894792(A;A)
Alt rs104894792(A;A)
Reference rs104894792(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.48385590G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012244.11,