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rs587783605

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783605(C;C)
Make rs587783605(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48524070
GeneEBP
is asnp
is mentioned by
dbSNPrs587783605
ebirs587783605
HLIrs587783605
Exacrs587783605
Varsomers587783605
Maprs587783605
PheGenIrs587783605
hapmaprs587783605
1000 genomesrs587783605
hgdprs587783605
ensemblrs587783605
gopubmedrs587783605
geneviewrs587783605
scholarrs587783605
googlers587783605
pharmgkbrs587783605
gwascentralrs587783605
openSNPrs587783605
23andMers587783605
23andMe allrs587783605
SNP Nexus

SNPshotrs587783605
SNPdbers587783605
MSV3drs587783605
GWAS Ctlgrs587783605
Max Magnitude0
ClinVar
Risk rs587783605(C;C)
Alt rs587783605(C;C)
Reference rs587783605(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.48382458T>C
CLNSRC
CLNACC RCV000145929.1,