Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783601

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783601(G;T)
Make rs587783601(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48523975
GeneEBP
is asnp
is mentioned by
dbSNPrs587783601
ebirs587783601
HLIrs587783601
Exacrs587783601
Varsomers587783601
Maprs587783601
PheGenIrs587783601
hapmaprs587783601
1000 genomesrs587783601
hgdprs587783601
ensemblrs587783601
gopubmedrs587783601
geneviewrs587783601
scholarrs587783601
googlers587783601
pharmgkbrs587783601
gwascentralrs587783601
openSNPrs587783601
23andMers587783601
23andMe allrs587783601
SNP Nexus

SNPshotrs587783601
SNPdbers587783601
MSV3drs587783601
GWAS Ctlgrs587783601
Max Magnitude0
ClinVar
Risk rs587783601(T;T)
Alt rs587783601(T;T)
Reference rs587783601(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.48382363G>T
CLNSRC
CLNACC RCV000145925.1,