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rs587783613

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783613(C;T)
Make rs587783613(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48527015
GeneEBP
is asnp
is mentioned by
dbSNPrs587783613
ebirs587783613
HLIrs587783613
Exacrs587783613
Varsomers587783613
Maprs587783613
PheGenIrs587783613
hapmaprs587783613
1000 genomesrs587783613
hgdprs587783613
ensemblrs587783613
gopubmedrs587783613
geneviewrs587783613
scholarrs587783613
googlers587783613
pharmgkbrs587783613
gwascentralrs587783613
openSNPrs587783613
23andMers587783613
23andMe allrs587783613
SNP Nexus

SNPshotrs587783613
SNPdbers587783613
MSV3drs587783613
GWAS Ctlgrs587783613
Max Magnitude0
ClinVar
Risk rs587783613(T;T)
Alt rs587783613(T;T)
Reference rs587783613(C;C)
Significance 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.48385403C>T
CLNSRC
CLNACC RCV000145937.1,