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rs587783604

From SNPedia

Orientationplus
Geno Mag Summary
(ATCTC;ATCTC) 0 common in clinvar
Make rs587783604(-;-)
Make rs587783604(-;TCTCA)
Make rs587783604(TCTCA;TCTCA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48524063
GeneEBP
is asnp
is mentioned by
dbSNPrs587783604
ebirs587783604
HLIrs587783604
Exacrs587783604
Varsomers587783604
Maprs587783604
PheGenIrs587783604
hapmaprs587783604
1000 genomesrs587783604
hgdprs587783604
ensemblrs587783604
gopubmedrs587783604
geneviewrs587783604
scholarrs587783604
googlers587783604
pharmgkbrs587783604
gwascentralrs587783604
openSNPrs587783604
23andMers587783604
23andMe allrs587783604
SNP Nexus

SNPshotrs587783604
SNPdbers587783604
MSV3drs587783604
GWAS Ctlgrs587783604
Max Magnitude0
ClinVar
Risk rs587783604(;)
Alt rs587783604(;)
Reference rs587783604(ATCTC;ATCTC)
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.48382451_48382455delTCTCA
CLNSRC
CLNACC RCV000145928.1,