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rs587783609

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783609(C;C)
Make rs587783609(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48526997
GeneEBP
is asnp
is mentioned by
dbSNPrs587783609
ebirs587783609
HLIrs587783609
Exacrs587783609
Varsomers587783609
Maprs587783609
PheGenIrs587783609
hapmaprs587783609
1000 genomesrs587783609
hgdprs587783609
ensemblrs587783609
gopubmedrs587783609
geneviewrs587783609
scholarrs587783609
googlers587783609
pharmgkbrs587783609
gwascentralrs587783609
openSNPrs587783609
23andMers587783609
23andMe allrs587783609
SNP Nexus

SNPshotrs587783609
SNPdbers587783609
MSV3drs587783609
GWAS Ctlgrs587783609
Max Magnitude0
ClinVar
Risk rs587783609(C;C)
Alt rs587783609(C;C)
Reference rs587783609(T;T)
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.48385385T>C
CLNSRC
CLNACC RCV000145933.1,