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rs587783600

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783600(A;A)
Make rs587783600(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48523953
GeneEBP
is asnp
is mentioned by
dbSNPrs587783600
ebirs587783600
HLIrs587783600
Exacrs587783600
Varsomers587783600
Maprs587783600
PheGenIrs587783600
hapmaprs587783600
1000 genomesrs587783600
hgdprs587783600
ensemblrs587783600
gopubmedrs587783600
geneviewrs587783600
scholarrs587783600
googlers587783600
pharmgkbrs587783600
gwascentralrs587783600
openSNPrs587783600
23andMers587783600
23andMe allrs587783600
SNP Nexus

SNPshotrs587783600
SNPdbers587783600
MSV3drs587783600
GWAS Ctlgrs587783600
Max Magnitude0
ClinVar
Risk rs587783600(A;A)
Alt rs587783600(A;A)
Reference rs587783600(G;G)
Significance 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.48382341G>A
CLNSRC
CLNACC RCV000145924.1,