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rs587783617

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783617(A;A)
Make rs587783617(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48528245
GeneEBP
is asnp
is mentioned by
dbSNPrs587783617
ebirs587783617
HLIrs587783617
Exacrs587783617
Varsomers587783617
Maprs587783617
PheGenIrs587783617
hapmaprs587783617
1000 genomesrs587783617
hgdprs587783617
ensemblrs587783617
gopubmedrs587783617
geneviewrs587783617
scholarrs587783617
googlers587783617
pharmgkbrs587783617
gwascentralrs587783617
openSNPrs587783617
23andMers587783617
23andMe allrs587783617
SNP Nexus

SNPshotrs587783617
SNPdbers587783617
MSV3drs587783617
GWAS Ctlgrs587783617
Max Magnitude0
ClinVar
Risk rs587783617(A;A)
Alt rs587783617(A;A)
Reference rs587783617(G;G)
Significance Probable-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.48386633G>A
CLNSRC
CLNACC RCV000145942.1,