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rs587783618

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783618(A;G)
Make rs587783618(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48528291
GeneEBP
is asnp
is mentioned by
dbSNPrs587783618
ebirs587783618
HLIrs587783618
Exacrs587783618
Varsomers587783618
Maprs587783618
PheGenIrs587783618
hapmaprs587783618
1000 genomesrs587783618
hgdprs587783618
ensemblrs587783618
gopubmedrs587783618
geneviewrs587783618
scholarrs587783618
googlers587783618
pharmgkbrs587783618
gwascentralrs587783618
openSNPrs587783618
23andMers587783618
23andMe allrs587783618
SNP Nexus

SNPshotrs587783618
SNPdbers587783618
MSV3drs587783618
GWAS Ctlgrs587783618
Max Magnitude0
ClinVar
Risk rs587783618(G;G)
Alt rs587783618(G;G)
Reference rs587783618(A;A)
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.48386679A>G
CLNSRC
CLNACC RCV000145944.1,