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rs587783615

From SNPedia

Orientationplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs587783615(-;-)
Make rs587783615(-;CT)
Make rs587783615(CT;CT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48527280
GeneEBP
is asnp
is mentioned by
dbSNPrs587783615
ebirs587783615
HLIrs587783615
Exacrs587783615
Varsomers587783615
Maprs587783615
PheGenIrs587783615
hapmaprs587783615
1000 genomesrs587783615
hgdprs587783615
ensemblrs587783615
gopubmedrs587783615
geneviewrs587783615
scholarrs587783615
googlers587783615
pharmgkbrs587783615
gwascentralrs587783615
openSNPrs587783615
23andMers587783615
23andMe allrs587783615
SNP Nexus

SNPshotrs587783615
SNPdbers587783615
MSV3drs587783615
GWAS Ctlgrs587783615
Max Magnitude0
ClinVar
Risk rs587783615(;)
Alt rs587783615(;)
Reference rs587783615(TC;TC)
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.48385668_48385669delCT
CLNSRC
CLNACC RCV000145940.1,