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rs587783612

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783612(A;A)
Make rs587783612(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48527007
GeneEBP
is asnp
is mentioned by
dbSNPrs587783612
ebirs587783612
HLIrs587783612
Exacrs587783612
Varsomers587783612
Maprs587783612
PheGenIrs587783612
hapmaprs587783612
1000 genomesrs587783612
hgdprs587783612
ensemblrs587783612
gopubmedrs587783612
geneviewrs587783612
scholarrs587783612
googlers587783612
pharmgkbrs587783612
gwascentralrs587783612
openSNPrs587783612
23andMers587783612
23andMe allrs587783612
SNP Nexus

SNPshotrs587783612
SNPdbers587783612
MSV3drs587783612
GWAS Ctlgrs587783612
Max Magnitude0
ClinVar
Risk rs587783612(A,C;A,C)
Alt rs587783612(A,C;A,C)
Reference rs587783612(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.48385395G>A
CLNSRC
CLNACC RCV000145936.1,