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rs587783614

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783614(C;C)
Make rs587783614(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48527018
GeneEBP
is asnp
is mentioned by
dbSNPrs587783614
ebirs587783614
HLIrs587783614
Exacrs587783614
Varsomers587783614
Maprs587783614
PheGenIrs587783614
hapmaprs587783614
1000 genomesrs587783614
hgdprs587783614
ensemblrs587783614
gopubmedrs587783614
geneviewrs587783614
scholarrs587783614
googlers587783614
pharmgkbrs587783614
gwascentralrs587783614
openSNPrs587783614
23andMers587783614
23andMe allrs587783614
SNP Nexus

SNPshotrs587783614
SNPdbers587783614
MSV3drs587783614
GWAS Ctlgrs587783614
Max Magnitude0
ClinVar
Risk rs587783614(C;C)
Alt rs587783614(C;C)
Reference rs587783614(T;T)
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.48385406T>C
CLNSRC
CLNACC RCV000145938.1,