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rs587783616

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783616(G;G)
Make rs587783616(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48528244
GeneEBP
is asnp
is mentioned by
dbSNPrs587783616
ebirs587783616
HLIrs587783616
Exacrs587783616
Varsomers587783616
Maprs587783616
PheGenIrs587783616
hapmaprs587783616
1000 genomesrs587783616
hgdprs587783616
ensemblrs587783616
gopubmedrs587783616
geneviewrs587783616
scholarrs587783616
googlers587783616
pharmgkbrs587783616
gwascentralrs587783616
openSNPrs587783616
23andMers587783616
23andMe allrs587783616
SNP Nexus

SNPshotrs587783616
SNPdbers587783616
MSV3drs587783616
GWAS Ctlgrs587783616
Max Magnitude0
ClinVar
Risk rs587783616(G;G)
Alt rs587783616(G;G)
Reference rs587783616(T;T)
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.48386632T>G
CLNSRC
CLNACC RCV000145941.1,