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rs587783608

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783608(A;T)
Make rs587783608(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48526991
GeneEBP
is asnp
is mentioned by
dbSNPrs587783608
ebirs587783608
HLIrs587783608
Exacrs587783608
Varsomers587783608
Maprs587783608
PheGenIrs587783608
hapmaprs587783608
1000 genomesrs587783608
hgdprs587783608
ensemblrs587783608
gopubmedrs587783608
geneviewrs587783608
scholarrs587783608
googlers587783608
pharmgkbrs587783608
gwascentralrs587783608
openSNPrs587783608
23andMers587783608
23andMe allrs587783608
SNP Nexus

SNPshotrs587783608
SNPdbers587783608
MSV3drs587783608
GWAS Ctlgrs587783608
Max Magnitude0
ClinVar
Risk rs587783608(T;T)
Alt rs587783608(T;T)
Reference rs587783608(A;A)
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.48385379A>T
CLNSRC
CLNACC RCV000145932.1,