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rs587783607

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783607(G;T)
Make rs587783607(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48526990
GeneEBP
is asnp
is mentioned by
dbSNPrs587783607
ClinGenrs587783607
ebirs587783607
HLIrs587783607
Exacrs587783607
Varsomers587783607
Maprs587783607
PheGenIrs587783607
hapmaprs587783607
1000 genomesrs587783607
hgdprs587783607
ensemblrs587783607
gopubmedrs587783607
geneviewrs587783607
scholarrs587783607
googlers587783607
pharmgkbrs587783607
gwascentralrs587783607
openSNPrs587783607
23andMers587783607
23andMe allrs587783607
SNP Nexus

SNPshotrs587783607
SNPdbers587783607
MSV3drs587783607
GWAS Ctlgrs587783607
Max Magnitude0
ClinVar
Risk rs587783607(T;T)
Alt rs587783607(T;T)
Reference Rs587783607(G;G)
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.48385378G>T
CLNSRC
CLNACC RCV000145931.1,