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rs587783602

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783602(C;C)
Make rs587783602(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48523985
GeneEBP
is asnp
is mentioned by
dbSNPrs587783602
ebirs587783602
HLIrs587783602
Exacrs587783602
Varsomers587783602
Maprs587783602
PheGenIrs587783602
hapmaprs587783602
1000 genomesrs587783602
hgdprs587783602
ensemblrs587783602
gopubmedrs587783602
geneviewrs587783602
scholarrs587783602
googlers587783602
pharmgkbrs587783602
gwascentralrs587783602
openSNPrs587783602
23andMers587783602
23andMe allrs587783602
SNP Nexus

SNPshotrs587783602
SNPdbers587783602
MSV3drs587783602
GWAS Ctlgrs587783602
Max Magnitude0
ClinVar
Risk rs587783602(C;C)
Alt rs587783602(C;C)
Reference rs587783602(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.48382373T>C
CLNSRC
CLNACC RCV000145926.1,