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rs587783603

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783603(A;A)
Make rs587783603(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48523989
GeneEBP
is asnp
is mentioned by
dbSNPrs587783603
ebirs587783603
HLIrs587783603
Exacrs587783603
Varsomers587783603
Maprs587783603
PheGenIrs587783603
hapmaprs587783603
1000 genomesrs587783603
hgdprs587783603
ensemblrs587783603
gopubmedrs587783603
geneviewrs587783603
scholarrs587783603
googlers587783603
pharmgkbrs587783603
gwascentralrs587783603
openSNPrs587783603
23andMers587783603
23andMe allrs587783603
SNP Nexus

SNPshotrs587783603
SNPdbers587783603
MSV3drs587783603
GWAS Ctlgrs587783603
Max Magnitude0
ClinVar
Risk rs587783603(A;A)
Alt rs587783603(A;A)
Reference rs587783603(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.48382377G>A
CLNSRC
CLNACC RCV000145927.1,