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rs587783610

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783610(A;G)
Make rs587783610(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48526998
GeneEBP
is asnp
is mentioned by
dbSNPrs587783610
ebirs587783610
HLIrs587783610
Exacrs587783610
Varsomers587783610
Maprs587783610
PheGenIrs587783610
hapmaprs587783610
1000 genomesrs587783610
hgdprs587783610
ensemblrs587783610
gopubmedrs587783610
geneviewrs587783610
scholarrs587783610
googlers587783610
pharmgkbrs587783610
gwascentralrs587783610
openSNPrs587783610
23andMers587783610
23andMe allrs587783610
SNP Nexus

SNPshotrs587783610
SNPdbers587783610
MSV3drs587783610
GWAS Ctlgrs587783610
Max Magnitude0
ClinVar
Risk rs587783610(G;G)
Alt rs587783610(G;G)
Reference rs587783610(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.48385386A>G
CLNSRC
CLNACC RCV000145934.1,