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rs587783599

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783599(G;T)
Make rs587783599(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48523912
GeneEBP
is asnp
is mentioned by
dbSNPrs587783599
ebirs587783599
HLIrs587783599
Exacrs587783599
Varsomers587783599
Maprs587783599
PheGenIrs587783599
hapmaprs587783599
1000 genomesrs587783599
hgdprs587783599
ensemblrs587783599
gopubmedrs587783599
geneviewrs587783599
scholarrs587783599
googlers587783599
pharmgkbrs587783599
gwascentralrs587783599
openSNPrs587783599
23andMers587783599
23andMe allrs587783599
SNP Nexus

SNPshotrs587783599
SNPdbers587783599
MSV3drs587783599
GWAS Ctlgrs587783599
Max Magnitude0
ClinVar
Risk rs587783599(T;T)
Alt rs587783599(T;T)
Reference rs587783599(G;G)
Significance Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant MEND syndrome
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant MEND syndrome
Reversed 0
HGVS NC_000023.10:g.48382300G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000145922.1, RCV000190980.3,