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rs587783611

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783611(A;A)
Make rs587783611(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48527001
GeneEBP
is asnp
is mentioned by
dbSNPrs587783611
ebirs587783611
HLIrs587783611
Exacrs587783611
Varsomers587783611
Maprs587783611
PheGenIrs587783611
hapmaprs587783611
1000 genomesrs587783611
hgdprs587783611
ensemblrs587783611
gopubmedrs587783611
geneviewrs587783611
scholarrs587783611
googlers587783611
pharmgkbrs587783611
gwascentralrs587783611
openSNPrs587783611
23andMers587783611
23andMe allrs587783611
SNP Nexus

SNPshotrs587783611
SNPdbers587783611
MSV3drs587783611
GWAS Ctlgrs587783611
Max Magnitude0
ClinVar
Risk rs587783611(A;A)
Alt rs587783611(A;A)
Reference rs587783611(C;C)
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.48385389C>A
CLNSRC
CLNACC RCV000145935.1,