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rs587783619

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783619(G;G)
Make rs587783619(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48528396
GeneEBP
is asnp
is mentioned by
dbSNPrs587783619
ebirs587783619
HLIrs587783619
Exacrs587783619
Varsomers587783619
Maprs587783619
PheGenIrs587783619
hapmaprs587783619
1000 genomesrs587783619
hgdprs587783619
ensemblrs587783619
gopubmedrs587783619
geneviewrs587783619
scholarrs587783619
googlers587783619
pharmgkbrs587783619
gwascentralrs587783619
openSNPrs587783619
23andMers587783619
23andMe allrs587783619
SNP Nexus

SNPshotrs587783619
SNPdbers587783619
MSV3drs587783619
GWAS Ctlgrs587783619
Max Magnitude0
ClinVar
Risk rs587783619(G;G)
Alt rs587783619(G;G)
Reference rs587783619(T;T)
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.48386784T>G
CLNSRC
CLNACC RCV000145945.1,